Parent Project Muscular Dystrophy

End Duchenne eNews: Appreciating Parents

Mon, 20 May 2013 09:20:46 -0400

Catch up on the latest research and community updates in this month's End Duchenne eNews. Also meet our Featured Voice for May, 12-year-old Jack Knight.

2013 Connect Conference Agenda

Mon, 20 May 2013 09:20:30 -0400

PPMD’s Annual Connect Conference will be here before you know it! This summer we return to Baltimore, Maryland at the beautiful Marriott Waterfront with our most exciting and important agenda yet focusing on Duchenne: Better, Faster, Now!. Check out who is presenting when.

Drisapersen Update webinar with GSK

Wed, 08 May 2013 11:46:54 -0400

The purpose of the webinar is to update the Duchenne community about Phase II clinical trial results for GSK’s drisapersen drug for the treatment of Duchenne. GSK investigator John Kraus will present and answer submitted questions. PPMD, CureDuchenne, and MDA will co-sponsor this webinar.

DuchenneConnect Year-End Report

Wed, 08 May 2013 11:46:44 -0400

We had a busy and exciting year as we continue to expand our services to patients and families, as well as to researchers and clinicians. A big “thank you” to everyone who registered on DuchenneConnect in March - we had 92 new patient registrations, our highest month ever!

New Mobile App - Locate Duchenne Clinical Trials

Wed, 08 May 2013 11:46:19 -0400

PPMD is thrilled to launch Duchenne Central! This new app for your smartphone allows you to search for Duchenne clinical trials and clinics near you or near a specific location. You can also keep track of the latest news, bookmark items, and share with family and friends. Keep your family in the know in real time.

New PPMD White Paper

Wed, 08 May 2013 11:46:02 -0400

PPMD is proud to share an advance copy of Putting Patients First: Recommendations to speed responsible access to new therapies for Duchenne, a white paper outlining recommendations to speed responsible access to new therapies for Duchenne. We are optimistic that Putting Patients First will provide guidance for the FDA and other regulatory agencies as they continue to understand Duchenne and this community’s need for accelerated approval.

DOD will provide $3.2 million to the Department of Defense Duchenne Muscular Dystrophy Research Program (DMDRP)

Wed, 08 May 2013 11:45:53 -0400

The Department of Defense just announced that the Defense Appropriations Act will provide $3.2 million to the Department of Defense Duchenne Muscular Dystrophy Research Program (DMDRP). In these tightening fiscal times, the continuation of this program is a testament to the advocacy of the Duchenne community on Capitol Hill. PPMD is thrilled by the announcement and proud of PPMD’s President Pat Furlong who serves as Chair of Congressionally Directed Medical Research Program in Duchenne.

End Duchenne eNews: A Rich Drug Development Pipeline

Wed, 08 May 2013 11:45:41 -0400

Catch up on the latest research and community updates in this month's End Duchenne eNews. Also meet our Featured Voice for April, 17-year-old Matt Scheivert.

GSK's Drisapersen Reaches Primary Objective in Study

Tue, 16 Apr 2013 11:39:44 -0400

GlaxoSmithKline Plc (GSK)’s drisapersen achieved the primary objective of a mid-stage study. Patients taking drisapersen showed a clinically meaningful difference from those on placebo after 48 weeks of treatment.

Drug Development Prospects for Duchenne: The Pipeline is rich and deep, with lots of forward momentum

Tue, 16 Apr 2013 11:39:31 -0400

This spring brings news of progress to the Duchenne community. PPMD's Vice President Research, Sharon Hesterlee, Ph.D. updates us on the promising prospects for treatment that are continuing to move forward.

Register for the 2013 Annual Connect Conference

Tue, 16 Apr 2013 11:36:26 -0400

Summer is just around the corner and with that comes PPMD’s Annual Connect Conference. We are excited to be back in Baltimore, Maryland this year and really excited about this year’s program. In 2013, PPMD’s Annual Connect Conference will focus on Duchenne: Better, Faster, Now!

PPMD Funds Investigator to Build New Muscle from Skin Cells to Treat Duchenne

Tue, 16 Apr 2013 11:35:59 -0400

PPMD has awarded University of Minnesota researcher Dr. Rita Perlingeiro a grant for $220,000 to develop a therapeutic approach for Duchenne using a new type of "adult-derived" stem cell called "iPSCs."

Summit outlines clinical development plans for Utrophin modulator program for Duchenne

Tue, 16 Apr 2013 11:35:46 -0400

Summit has announced their proposed plans for the first patient trials of their lead utrophin drug SMT C1100, as well as other supporting work that will happen in parallel.

End Duchenne eNews: Connecting you to Clinical Trials

Tue, 16 Apr 2013 11:29:54 -0400

Catch up on the latest research and community updates in this month's End Duchenne eNews. Also meet our Featured Voice for March, 11-year-old Christopher Cameron.

Webinar Recording: Adult Cardiac Care

Tue, 16 Apr 2013 11:29:41 -0400

Cardiac care remains a major area of focus and concern for all those affected by Duchenne. PPMD held the fourth in our series of four cardiac webinars on Wednesday, March 6. This webinar was be dedicated to the subject of cardiac care for adults living with Duchenne.

PPMD Funds Investigator to Build New Muscle from Skin Cells to Treat Duchenne

Fri, 22 Mar 2013 10:22:17 -0400

Parent Project Muscular Dystrophy (PPMD) has awarded University of Minnesota researcher Dr. Rita Perlingeiro a grant for $220,000 to develop a therapeutic approach for Duchenne using a new type of "adult-derived" stem cell called "induced pluripotent stem cells" or "iPSCs." iPSCs can be created from non-controversial sources like skin, have the ability to multiply indefinitely, and can be coaxed to become many different kinds of tissue types.

Previously, Dr. Perlingeiro's group demonstrated that skin cells from donor mice that lack dystrophin could be converted into iPSCs, and then converted again into muscle stem cells with the mutation corrected using a modified viral carrier. When these corrected mouse stem cells were transplanted into recipient mice that lacked dystrophin, the mice showed improved muscle strength.

Now Dr. Perlingeiro will repeat this process with funding from PPMD, this time using human skin cells from donors with Duchenne and using a safer method of correcting the dystrophin deficiency that does not rely upon random integration. The goal is to start laying the groundwork for an FDA-approved stem cell treatment for Duchenne.

"Translating results in mice to treatments in humans is never straightforward. Support from the Parent Project will be tremendously beneficial at this stage in the development of stem cell therapies for muscular dystrophy."

- Dr. Perlingeiro

Since the mid-1990s, researchers have investigated repairing muscle lost to muscular dystrophy with various types of cells, usually from an unaffected donor whose cells have a normal supply of dystrophin. Key challenges have included producing and purifying enough stem cells to transplant, getting cells to migrate into the diseased muscle, and then getting the donor cells to survive long enough to engraft and build healthy new muscle without being attacked by the immune system. By using iPSCs, Dr. Perlingeiro's approach should theoretically allow an infinite supply of healthy muscle stem cells to be generated from a single small skin sample from a person with Duchenne. And because a person's own cells, corrected for the dystrophin mutation, would ultimately be used for treatment, the potential for the recipient's immune system to reject the new cells is reduced.

In addition to solving production issues and immune rejection issues, it also appears that some of the cells created by Dr. Perlingeiro's technique do not immediately become converted into mature muscle, but are rather maintained as muscle stem cells and continue to produce new, healthy mature muscle cells within the donor muscle. This means that as diseased muscle is lost over time, it may gradually become replaced with new muscle produced from the healthy transplanted stem cells.

"While the field has seen amazing potential in technology like exon-skipping designed to treat specific mutations, we have lacked a more general approach that could rebuild muscle in any person with a genetic muscle disease, regardless of the type of mutation. As the technology to produce stem cells has matured, we are thrilled that Dr. Perlingeiro is applying these new techniques to the problem of rebuilding lost muscle, which has the potential of helping all people with Duchenne."

- Pat Furlong, Founding President and CEO of PPMD

For more about Parent Project Muscular Dystrophy's grant program, as well as a comprehensive list of what we are funding, please visit ParentProjectMD.org/Research.

West Coast Connect!

Wed, 13 Mar 2013 14:12:54 -0400

I am so excited that in just 6 weeks, Parent Project Muscular Dystrophy will be hosting our second West Coast Connect Meeting in San Diego, CA, April 26-28, 2013. This meeting will be hosted at the San Diego Marriott Mission Valley.

The agenda is just days away from being finalized, but I can share with you that this year’s meeting will cover:

Natural history data
Talks regarding biomarkers
Numerous Duchenne research presentations
Care discussions to include topics such as cardiology, bone health and transition care
Hands on PT sessions
Discussions related to behaviors in Duchenne and accommodations
A panel presentation from some of our Industry partners to discuss and update us on clinical trials

And we are excited to be putting in place an Expert Panel of young men living with Duchenne who will be presenting on all topics Duchenne.

We hope you can join us for this meeting. We are sure you will find the topics and speakers informative and inspiring.

Registration details can be found at ParentProjectMD.org/WestCoastConnect. And remember, if you need hotel accommodations while at the meeting, please make sure to book your reservation prior to April 4 to receive our group rate.

Looking forward to seeing you in sunny California!

Related links

Tree of Hearts

Wed, 06 Mar 2013 11:20:18 -0500

I wish we had a Tree of Hearts. Healthy new hearts would hang on the high branches and devices on the lower branches – low hanging fruit! Established guidelines about who, what, in what circumstances, and where, accompanied by a simple set of instructions for physicians all over the world to understand, adapt, and provide appropriate care for these technologies. A handbook for parents and their physicians with a simple statement – The Heart is a Muscle Too – Duchenne Hearts Matter.

There would be no need for donors. Parents would never have to sit at the bedside of their sick child, without options or limited expertise. They would not be asked to make impossible choices. There would be no waiting for a device or a new heart. No parent would carry the burden that a new heart for one means another life ends.

My Tree of Hearts would come with guarantees, an assurance of more time, even if it felt like borrowed time.

My Tree of Hearts would have generic hearts, beating in rhythm, ready and available for anyone in need. The transplant team would call the Tree of Hearts nursery to make the request. Within seconds, the new, healthy heart would be on its way to the center. The patient would be prepared for the surgical procedure, chest opened and ready as the surgeon, heart in hand, would remove the broken heart and gently lay this new, healthy heart in its place. Gingerly, the surgeon would attach all of the vessels and in a single instant, the heart would take on the genetic characteristics of the recipient and beat strong and steady. No immune suppression required. Lub dub, lub dub. Lub dub. Music to the heart and to the ears of the family waiting in the wings. The surgical procedure would be easy, no complications. Joyful parents, tears in their eyes, would see their smiling son, the cloud of his broken heart a forgotten memory. Each day of recovery would be better than the last until the patient would leave the hospital, eager and excited about this new life.

The ICDs and VADs would come a list of instructions, the ‘how to’s” and essential steps for use. Standards established, proactively intervening. No waiting. None at all. The set of instructions for use would ensure optimal care and instill confidence where the device feels like new, unfamiliar territory.

Some weeks back you may have watched PPMD’s Webinar on Ventricular Assist Devices or VADS for short. Cardiac surgeons from different institutions discussed VADS and the first US experience, a 26-year-old man with Duchenne performed at Cincinnati Children’s Hospital. The discussion was interesting, frightening, exciting, and humbling. Another possibility. An opportunity for Duchenne – destination therapy for individuals in severe heart failure, now a potential for our sons. We listened, we learned, and parked the information away in the ‘just in case’ section of our brain.

And then one day, we woke up, signed on to our Facebook account and were heartbroken to learn that one of our own was in severe failure. All of us pushed the emergency button in our brain. How could this happen. So young. So unfair. So heartbreaking. So wrong. And we reached out to others, to anyone willing to listen, calling and begging for help.
One more time, the community raised their voices in protest. NO! NO HOPE AND NO HELP – words we have heard in the course of our journey and thrown out as impossible, intolerable, unacceptable, and unethical. The word rolled off of our tongues. NO!

In the last weeks we have learned more about VADS than we ever wanted to know.

The idea of an artificial heart and assist devices started long ago. In 1982, Barney Clark received the first artificial heart, called the Jarvick. In 1982, (the dark ages of cardiac surgery) Barney Clark did not expect to live more than a few days, but hoped that Dr. Jarvick and future doctors might learn to save the lives of others someday. Thirty years later, the technology has improved and evolved, and currently there are several FDA approved devices.

A VAD is an implantable mechanical pump that helps pump blood from the lower chambers of the heart (the ventricles) to the rest of your body. VADs are used in people who have weakened hearts or heart failure. Although VADs can be placed in the left, right, or both ventricles of your heart, they are most frequently used in the left ventricle. When placed in the left ventricle they are called left ventricular assist devices (LVADs). The procedure to implant a VAD requires open-heart surgery and has serious risks. However, a VAD can be lifesaving if a patient is in severe heart failure.

Here’s the hard part. Not every center has a pediatric VAD program. Not every insurance will allow patients to go outside their state in order to receive a VAD. And there are several types of these devices, each one is a bit different, requiring specific expertise, experience, tools, and management. Physicians are typically trained on one particular type. They become familiar, develop experience, and a certain comfort level with a certain device. Like all of us, we go with what we know, what we can rely on, what is familiar. Physicians at other institutions may prefer a different device. There is no ‘one size fits all’ in terms of devices and physicians are not ‘jack of all trades’, able to adapt and feel confident in procedures and devices that are unfamiliar.

Management of the VAD has serious challenges. ERs have to be alerted in case of an emergency. They have to have tools and knowledge in the event of an emergency. As you might imagine, the local physicians – all of them: cardiac surgeon, cardiologist, neurologist, pulmonologist, nurse practitioner, ER physicians – have to know what to do when, have to have familiar tools, significant expertise and ability, and more than a little experience if the patient is to survive.

At the end of the day, VADs will be useful in Duchenne at certain times and in certain circumstances.
Here are our marching orders:

Convene interested centers/surgeons to begin to develop guidelines and standards
Publish and ensure the community has access to the standards (transparency)
Educational information for physicians and families
Contact information – questions, information and soon, a helpline

While my Tree of Hearts sounds like wishful thinking at the moment, we will convene leaders in the field to begin to develop standards for the use of devices such as ICD and VADs, and expand our understanding of the policies and practice of heart transplantation.

For Matthew.

For Mitchell.

For all of our sons.

The MD-CARE Act: Update on Reauthorization Efforts

Tue, 05 Mar 2013 16:01:14 -0500

We continue to make progress on the Reauthorization of the MD-CARE Act. Thanks to you, we have already collected a number of cosponsors for the legislation. It’s a strong start and we must continue to tell our story to congress and explain why renewing this critical legislation is paramount to all those living with Duchenne and all those diagnosed tomorrow and beyond. Please continue to send the message to friends and family and ask them to take action.

Since we left DC, we are happy to report 36 members have already signed on as cosponsors.

Please send a thank you note to those members listed below. A hand written thank you goes a long way to creating and maintaining champions for our cause. Find out who your members are and how to send them a thank you message.

House (Bill number - H.R.594)

Sponsor: Rep Burgess, Michael C. [TX-26] (introduced 2/8/2013)

Cosponsors (26)

Rep Andrews, Robert E. [NJ-1] - 2/25/2013
Rep Bachus, Spencer [AL-6] - 2/25/2013
Rep Bishop, Sanford D., Jr. [GA-2] - 2/25/2013
Rep Brownley, Julia [CA-26] - 2/25/2013
Rep Ellison, Keith [MN-5] - 2/25/2013
Rep Engel, Eliot L. [NY-16] - 2/8/2013
Rep Graves, Sam [MO-6] - 2/25/2013
Rep Green, Gene [TX-29] - 2/25/2013
Rep Hall, Ralph M. [TX-4] - 2/25/2013
Rep Holt, Rush [NJ-12] - 2/25/2013
Rep Kilmer, Derek [WA-6] - 2/25/2013
Rep King, Peter T. [NY-2] - 2/25/2013
Rep Lowey, Nita M. [NY-17] - 2/25/2013
Rep Maloney, Carolyn B. [NY-12] - 2/25/2013
Rep Markey, Edward J. [MA-5] - 2/25/2013
Rep Matsui, Doris O. [CA-6] - 2/25/2013
Rep Owens, William L. [NY-21] - 2/25/2013
Rep Peterson, Collin C. [MN-7] - 2/25/2013
Rep Poe, Ted [TX-2] - 2/25/2013
Rep Runyan, Jon [NJ-3] - 2/25/2013
Rep Rush, Bobby L. [IL-1] - 2/25/2013
Rep Schwartz, Allyson Y. [PA-13] - 2/25/2013
Rep Sessions, Pete [TX-32] - 2/25/2013
Rep Shea-Porter, Carol [NH-1] - 2/25/2013
Rep Slaughter, Louise McIntosh [NY-25] - 2/25/2013
Rep Welch, Peter [VT] - 2/25/2013

Related Bills: S.315

Senate (Bill number - S.315)

Sponsor: Sen Klobuchar, Amy [MN] (introduced 2/13/2013)

Cosponsors (10)

Sen Collins, Susan M. [ME] - 2/13/2013
Sen Isakson, Johnny [GA] - 2/13/2013
Sen Lautenberg, Frank R. [NJ] - 2/13/2013
Sen Leahy, Patrick J. [VT] - 2/13/2013
Sen Menendez, Robert [NJ] - 2/13/2013
Sen Mikulski, Barbara A. [MD] - 2/13/2013
Sen Nelson, Bill [FL] - 2/13/2013
Sen Sanders, Bernard [VT] - 2/13/2013
Sen Schumer, Charles E. [NY] - 2/25/2013
Sen Wicker, Roger F. [MS] - 2/13/2013

Related Bills: H.R.594

PPMD Funds UCLA Project to Identify Genetic Changes that Affect the Severity of Duchenne

Tue, 05 Mar 2013 11:02:46 -0500

PPMD will provide $100,000 to Dr. Stanley Nelson of the University of California, Los Angeles, to examine the genomes of 40 boys with Duchenne who are either very mildly affected or very severely affected. The goal is to identify changes in genes other than dystrophin that may affect the course of the disease.

"We know that even boys who have exactly the same mutation in the dystrophin gene can have different disease courses. It is very likely that other mutations or DNA variants in different genes may play a role in addition to dystrophin."

-- Dr. Nelson

Dr. Nelson will use a relatively new technique known as "exome sequencing" to look only at the parts of the genetic code that spell out the recipe for proteins, known individually as "exons." Because the exons of the genome make up less than 1% of the total genetic material, this method provides a far more practical way to look at the coding regions (genes) for the about 20,000 human proteins without having to sequence the participants' entire genome.

For this project, Dr. Nelson will obtain blood samples primarily from boys and men participating in registries and other studies who have out-of-frame deletions or know they have Duchenne from a muscle biopsy data and have been identified as "outliers" for the speed at which the disease is progressing in the skeletal muscles—that is, they have very mild disease or very severe disease based on the age that the ability to walk was lost. The work will be conducted within the Center for Duchenne Muscular Dystrophy at UCLA with additional analyses supported by the Genomics and Bioinformatics Core of the NIAMS-funded UCLA Muscular Dystrophy Core Center.

Information generated from this project may serve a number of important functions, including providing critical insight into biological functions that affect Duchenne progression; allowing clinical trial sponsors to select participants with more similar disease courses based on genetic data (to design smaller, faster, and more powerful trials); and identifying new targets for drug development. It is also likely that some of the changes identified will be relevant to other forms of muscular dystrophy and muscle disease.

"The need to identify genetic modifiers is part of our strategic plan for research. We know this information may greatly speed the conduct of clinical trials by reducing the variability among participants in relation to other benefits. We are pleased to be able to fund Dr. Nelson's work."

-- Sharon Hesterlee, PPMD's Vice President for Research

For more about Parent Project Muscular Dystrophy's grant program, as well as a comprehensive list of what we are funding, please visit ParentProjectMD.org/Research.

To inquire about participating in this research, please contact Dr. Nelson's office by calling 310-983-3402 or emailing atcdmd@ucla.edu.

Run For Our Sons - Winter Newsletter

Mon, 04 Mar 2013 14:37:27 -0500

Going the distance to make it possible!

January was a phenomenal month for Run For Our Sons and the PPMD community. In one extraordinary weekend, 270 runners participated in 2 races and raised more than $350,000 to end Duchenne. Our runners, walkers, and rollers in the Walt Disney World Marathon Weekend and the Chevron Houston Marathon kicked off what is sure to be one of the best years yet for Run For Our Sons.

In 2012, Run For Our Sons raised more than $1.3 million – a record-breaking year for our endurance program! Run For Our Sons began nine years ago, with one race and a determined group of runners at Disney World. Today, we have expanded into 15+ races across the country and thousands of participants. We added new races last year in Baltimore, New Orleans, Cleveland and Grand Rapids, and expanded our program to include the prestigious New York City Triathlon and Conquer the Canyon, a Grand Canyon hiking adventure. This incredible year was all thanks to you – our runners and cheerleaders!

Your Impact
The funds raised from all Run For Our Sons events continue to push PPMD’s programs forward, and every step taken and every dollar raised is critical in our fight to end Duchenne.

See a full recap of all of our 2012 and early 2013 races.

Nicole Herring
Endurance Program Manager

Tri For Our Sons in NYC

Swim, bike, and run through the Big Apple in the Aquaphor New York City Triathlon with the Tri For Our Sons team. This challenging race will have you swimming in theHudson River, biking along theWest Side of Manhattan, and running through NYC’s famedCentral Park, all before most people get out of bed!

Join Tri For Our Sons on July 14th for this memorable experience.

Tell Us What You Think!

If you ran a race with us in the past year, we’d love to hear your feedback! Tell us what you think about your experience with the Run For Our Sons team and help us make our program even better.
Take the Run For Our Sons feedback survey.

Runners in the Spotlight

Meet some of our recent Runners in the Spotlight and learn why they run. Their stories may be just the inspiration you need to run with Run For Our Sons!

Maria McDonald is one of 9 children, all of whom run for their youngest brother, Mark.

Meet Matt Dague, who has run 4 marathons for his nephew Alec and looks forward to running many more!

Leeandra Archdeacon is mom to Nicholas, her inspiration for running. She has participated in 9 half marathons and is training for at least 4 more!

Patrick Rownd has competed in several half marathons over the past year in honor of his son Wyatt, his biggest inspiration and the reason he runs every mile.

Now Recruiting For…

Our calendar is jam-packed with races across the country, including some brand new additions! Sign up today and go the distance to end Duchenne!

Flying Pig Marathon, Half Marathon & 10K – May 5th
Rite-Aid Cleveland Marathon, Half Marathon, 10K & 5K – May 19th
Rock ‘n’ Roll Seattle Marathon & Half Marathon – June 22nd
Aquaphor New York City Triathlon – July 14th
Disneyland Half Marathon Weekend – August 30th & September 1st
**NEW** Medtronic Twin Cities Marathon – October 6th
Under Armour Baltimore Running Festival – October 12th
Bank of America Chicago Marathon – October 13th
Rock ‘n’ Roll Denver Marathon & Half Marathon – October 20th
**NEW** Marine Corps Marathon – October 27th

And Save the Date for these popular 2014 races!

Walt Disney World Marathon Weekend – January 9-12, 2014
Chevron Houston Marathon & Aramco Houston Half Marathon – January 19, 2014

For information about how you can join the Run For Our Sons team, visit our website or emailinfo@runforoursons.org.

Like Run For Our Sons on Facebook and follow us on Twitter to get the latest news, fundraising and training tips, and to connect with other runners.

LAST CALL: Risk/Benefit in Duchenne Therapies Survey

Tue, 19 Feb 2013 15:56:09 -0500

This is our last call for participants for the survey. If you have already done the survey, thanks so much! If you haven’t done the survey, or are in the middle of completing it, please do so before 9:00 PM Eastern time on Wednesday, Feb 20th. We are still in need of a few more participants.

We especially need parents OR guardians of:

Very young children, especially age 4 and under
Children who are able to walk some, but who are having a lot of difficulty
Adults who have lost the ability to power their own wheelchair

Take the treatment priorities survey now.

Action Alert: Help Reauthorization from Home

Tue, 19 Feb 2013 15:55:45 -0500

We recognize that not everyone is able to travel to Washington for our Advocacy conference. While our advocates continue to visit offices on Capitol Hill, you can make a difference from home. You are just a couple of clicks away from helping!

Many of you already submitted your information for our packet drop off – here is one more simple step you can take to help to solidify your message to Congress.

Help make our voice heard this week in Washington...

Make a Phone Call and Send an Email

PPMD families from across the country need your help urging Senators, Congressmen and/or their staff to co-sponsor the Paul D. Wellstone MD-CARE Act reauthorization.

You can help reinforce our message by sending emails and make phone calls. This can be with just a few easy clicks or five minutes on the phone.

PPMD Funds Collection and Analysis of Imaging Data from Eteplirsen Study

Mon, 04 Feb 2013 11:43:00 -0500

Parent Project Muscular Dystrophy (PPMD) announced that it has funded $59,000 to Krista Vandenborne, PhD of the University of Florida in Gainesville to test the ability of magnetic resonance imaging (MRI) to detect changes in the muscles of those living with Duchenne muscular dystrophy (Duchenne) who participated in the Sarepta phase II trial of Eteplirsen.
"This supplemental funding from PPMD allowed us to very quickly take advantage of a trial in progress to see if MRI can detect changes in the amount and quality of muscle in response to an experimental treatment," said Dr. Vandenborne.

Eteplirsen is an antisense oligonucleotide-based drug that allows skipping of exon 51 in the dystrophin gene. For approximately 13% of those with Duchenne, skipping exon 51 may lead to the production of a shorter, but functional dystrophin protein. Sarepta Therapeutics recently completed a phase II study of the drug in 12 participants and found evidence of dystrophin production and some improvement in the distance walked in six minutes.

Although the six minute walk test has been used as a primary outcome in almost all of the current clinical trials for Duchenne, study sponsors are also interested in identifying "biomarkers" or other types of measurements that might indirectly predict which study participants are responding to a therapeutic intervention. If such biomarkers can be identified and demonstrated to be linked to functional benefits, such as walking ability, they may one day be used in place of functional tests or to add supporting evidence to those tests.

Dr. Vandenborne's group has been using a technique known as "magnetic resonance imaging" or "MRI" to generate pictures of the muscles to demonstrate how much tissue is there, differentiating it from fatty scar tissue. Due to pilot data generated from an earlier End Duchenne award from PPMD, Dr. Vandenborne received a $7 million grant from the National Institutes of Health to test the ability of MRI to accurately predict the loss of muscle function in boys not undergoing treatment trials.

Now PPMD has provided an additional $59,000 to Dr. Vandenborne to test the ability of MRI to detect changes in the muscle in response to a treatment – in this case Sarepta's Eteplirsen. The investigators have collected data from the active phase of the study and will continue collecting data as the original study participants stay on the drug in the extended access program. Results of the MRI analysis from the phase II Eteplirsen study will be submitted for publication as soon as the data is compiled.

"Developing accurate, reliable ways to detect when new drugs are working has become increasingly important, as more drugs enter clinical testing for Duchenne," said PPMD's Founding President and CEO Patricia Furlong . "This study is part of our ongoing effort to provide tools that will give each new experimental drug the very best chance for success."

This grant was made possible as a result of PPMD's recent holiday campaign which focused on raising funds for projects aimed at identifying biomarkers and genetic modifiers, which will help to unlock better and faster ways of advancing clinical trials.

For more about Parent Project Muscular Dystrophy's grant program, as well as a comprehensive list of what we are funding, please visit ParentProjectMD.org/Research.

Webinar Recording: Cardiac Series - LVAD in Duchenne

Wed, 30 Jan 2013 12:36:37 -0500

On January 24, PPMD hosted the third in our series of four cardiac webinars. This webinar was dedicated to the subject of LVAD use in patients with Duchenne. We were pleased to be joined by a panel of four outstanding surgeons who are all experts in the field of cardiothoracic surgery. The recording is now available online.

Is Your District Represented?

Tue, 29 Jan 2013 12:47:03 -0500

As you know, we head into an important year of Advocacy with the muscular dystrophy community determined to Reauthorize the MD-CARE Act. We issued a 50 state challenge in the hopes of getting representation from Duchenne advocates in each district and every state. You heard the call to action and you responded! We compiled a list of coverage by state and district to date. Please make sure YOU are represented!

Important Reminder: Cardiac Webinar Series Continues 1/24/13

Tue, 22 Jan 2013 09:29:14 -0500

Cardiac Series Part 3:
The Use of Ventricular Assist Devices (VAD)
On Thursday, January 24 at 1pm eastern, PPMD will be hosting the third in our series of four cardiac webinars. This webinar will be dedicated to the subject of LVAD use in patients with Duchenne.

We are pleased to be joined by a panel of four outstanding surgeons who are all experts in the field of cardiothoracic surgery:
Dr. Pirooz Eghtesady - cardiothoracic surgery, St. Louis Children’s Hospital
Dr. David Morales - Chief of Cardiovascular surgery, executive co-director of the Heart Institute, Cincinnati Children's Hosptial Medical Center
Dr. Robert “Jake” Jaquiss - Chief of Pediatric Cardiothoracic Surgery, Duke University
Dr. Patrick McConnell - Cardiothoracic Surgery, Nationwide Children’s Hospital

The topics they will cover will include:
What is a VAD/LVAD?
When might a VAD be considered?
Who might be considered as a candidate?
Pros and cons of VAD implantation
Post-VAD life; lessons learned from the first 3 recipients

To Participate
Visit ReadyTalk.com and use participant code 9449985. (Be sure to test your computer beforehand)

Audio Dial-In Information:
U.S. & Canada: Dial 866.740.1260 and use the Access Code 9449985
Outside the U.S. and Canada: Lookup your number

As always, if you are unable to attend or want to listen again, a link to download this webinar will be posted as soon as it is available.

Parent Project Muscular Dystrophy Grants $175,000 for Biomarkers, Non-Ambulatory Endpoints in Duchenne Muscular Dystrophy

Fri, 18 Jan 2013 10:16:30 -0500

Parent Project Muscular Dystrophy (PPMD) has awarded Dr. Craig McDonald of the University of California, Davis (UC Davis) $175,000 in supplemental funds to expand his ongoing study through the 20 CINRG (Cooperative International Neuromuscular Research Group) centers to better understand the progression of Duchenne muscular dystrophy (Duchenne) and determine the impact of the Duchenne standards of care established by the Centers for Disease Control (CDC). Related studies will focus on developing new endpoints in boys who are still walking and those who can no longer walk, and identifying blood markers that track the progression of the disease. The PPMD funding will allow Dr. McDonald to recruit 100 additional subjects into the study.
(Logo: http://photos.prnewswire.com/prnh/20100119/DC39975LOGO )
"Funding from PPMD will make a critical difference in the development of new outcome measures and the overall quality of the data we collect in this study," said McDonald who is a professor and chair of the UC Davis Department of Physical Medicine and Rehabilitation. "These studies have already impacted the development of endpoints for trials in Duchenne and the new funding will allow us to extend the research into younger boys and boys who have not yet started taking steroids."
This research is critical because companies developing therapies for Duchenne, the Food and Drug Administration, and academic investigators have all expressed a need to develop additional "endpoints," or ways to measure the effectiveness of experimental drugs in clinical trials. Although the six minute timed walk has been used in many clinical trials to date, new endpoints that can be used for wider ranges of ability so that more boys will be eligible to participate in drug trials could improve investigators' ability to recruit for clinical trials. For example, Dr. McDonald's group is developing an "upper extremity function test" that could be used in clinical trials for subjects who have lost the ability to walk.
In addition to developing new endpoints, the investigators will also be taking blood samples from participants to look for proteins in the blood or "biomarkers" that could indicate quickly whether or not a drug is working. The group has already identified several prospective biomarker candidates and now needs to test those markers in a larger group of participants.
"We are pleased to provide funding to enhance this project," said Pat Furlong , Founding President and CEO of Parent Project Muscular Dystrophy. "As the pipeline of new drugs for Duchenne continues to mature, we are committed to making sure that investigators and companies have all the tools they need to approve drugs efficiently."
This grant was made possible as a result of PPMD's recent holiday campaign which focused on raising funds for projects aimed at identifying biomarkers and genetic modifiers, which will help to unlock better and faster ways of advancing clinical trials.
For more about Parent Project Muscular Dystrophy's grant program, as well as a comprehensive list of what we are funding, please visit ParentProjectMD.org/Research.

PR Newswire (http://s.tt/1yDpV)

Help PPMD make twice the impact on important research

Thu, 27 Dec 2012 14:11:28 -0500

We’re so close to reaching our goal of $300,000. Thanks to Ellen Wagner and her family, if you give by the 31st, your donation will go twice as far!

Sharon, our Vice President for Research, wrote to you last week, explaining how important it is to support projects that create meaningful outcome measures for Duchenne therapies. Many people in our community have responded with generous donations.

Please take a minute to share this with anyone in your life who knows what Duchenne is and has asked how they can help us end it. Remember: All online donations up to $50,000 will be matched 100%!

The new year is approaching, and there’s no better way to end 2012 than by reaching our ambitious fundraising goal. Thank you for helping to make it all possible!

Enjoy a bountiful 2013!

Vote for PPMD in Houston Marathon’s Run For a Reason Charity Contest

Thu, 20 Dec 2012 16:19:42 -0500

Vote for Parent Project Muscular Dystrophy and help us win $50,000!

Chevron is donating $50,000 to the Houston Marathon’s Run For a Reason Charity that receives the most votes between now and January 8^th. Just click this link, select Parent Project Muscular Dystrophy, hit Vote, and you’re done! It’s that easy.

Vote now, then share this with everyone you know and ask them to vote too! The charity with the most votes wins.

Votes verified by an independent agency. Chevron, the Houston Marathon Committee and the Houston Marathon Foundation are not responsible for votes not received due to computer/internet malfunctions.

Webinar: Ataluren Update with PTC

Thu, 20 Dec 2012 12:55:05 -0500

January 17 at noon EST

Dr. Jay Barth, Vice President for Clinical Development at PTC Therapeutics will present information about the study design and timeline for the upcoming Phase 3 confirmatory study of ataluren in Duchenne muscular dystrophy.

Additional Information:

Questions can be submitted until noon on Monday, January 14, by emailing info@ParentProjectMD.org (please put "Ataluren Webinar” as the subject line).
The webinar will be recorded and available for replay shortly after.

To Participate:

Visit ReadyTalk.com and use participant code 9449985. (Be sure to test your computer beforehand)
Audio Dial-In Information:
- U.S. & Canada: Dial 866.740.1260 and use the Access Code 9449985
- Outside the U.S. and Canada: Lookup your number

Exon Skipping & Improving Industry Communications

Thu, 20 Dec 2012 10:00:33 -0500

The 194th workshop of the European Neuro Muscular Centre (ENMC) met in Naarden, The Netherlands, December 7-9, 2012. The title of the workshop was, “Towards Clinical Application of Antisense-mediated Exon Skipping for Duchenne Muscular Dystrophy – Opportunities and Challenges.” 25 representatives of industry, research, care and advocacy from around the world attended the workshop.

Industry and research presented the current state of the science of exon skipping: where trials stand and result so far. Future directions, including the challenges of developing additional antisense oligonucleotides (AO’s), detecting and improving delivery of AO’s, responses to treatment were discussed. Potential outcome measures and initiatives for clinical trails in smaller subpopulations were discussed. Finally, the importance of affecting the cardiac muscle was stressed.

Parent and patient representatives from the US, The Netherlands and Italy discussed the importance of communication – accurate, precise, timely and transparent communication. The impact of social media, and the responsibility of all parties to be aware of messages that are given and received online was stressed. Everyone agreed that we are indeed in a new era of communication. Social media may not be recognized by industry and research as credible, but the ability of sites such as Facebook to impact a huge portion of the community in a very brief amount of time was recognized. The take home message was that parents and patients appreciate regular communication, both when there is and where there is not something new to report.

As a result of this meeting, a working group addressing communication was formed. The working group was charged with the task of developing a method for industry to give regular (quarterly) reports to patient/parent organization, which will then publish them for the Duchenne and Becker community. This will enable the Duchenne and Becker community to have available, timely access to accurate information, which comes straight from industry and is delivered in a consistent manner to the entire community. The working group will keep us updated as to their progress and hopes to have a working method of information in place within the next few months.

Two Moms, Co-Blogging: The Greatest of These

Thu, 20 Dec 2012 10:00:03 -0500

12 months of IVY blogs

by Pat Furlong

For the last 12 months, we have all enjoyed Ivy’s blogs. I have had the pleasure of introducing Ivy’s words, wrapping my words around hers, almost as if wrapping a gift, finding the perfect box, filling it with tissue paper, or laying the words on piece of black velvet, like an exquisite piece of jewelry. Some of the time, I thought her words should be on a soft pillow and carried as if in a procession for all to see. This month’s particular one, beamed from earth and posted on the moon to light up the night sky.

Sometimes I thought about them as comfort food, hot chocolate and blueberry muffins or warm potato soup on days when sadness seemed to surround me. Often, a few words or a phrase recycled in my brain as delicious morsels, a bag of chocolate chips to savor for the day, a gentle reboot for my thoughts. And there were times when I imagined myself back in school, imagining classes such as ‘Wisdom 101’ or ‘Learnings from Rain’ as I read and re-read Ivy’s blogs.

Like all of you, tis the season for thinking about Miracles, Magic, and Meaning. Duchenne has taught me many things and perhaps the most important is to give, to be part of something much, so much greater than the sum of its parts – a community that is willing to: bear all things, believe all things, hope all things, endure all things in the persistent pursuit of a cure.

God Bless Us Everyone.

Pat Furlong is the Founder and President of Parent Project Muscular Dystrophy. Follow Pat at her blog.

The Greatest of These

by Ivy Scherbarth

Nearly everyone, nearly everywhere is celebrating something at this time of year, whether you call it Diwali or the Day of Ashura, Hanukkah, Kwanzaa, Yule or Christmas or something else entirely. Here's what I love: the mingled smells of snow and latkes and gingerbread, fresh oranges and fir needles and peppermint candy. The feel of wool scarves and velvet and polar fleece. The sight of rosy cheeked smiles popping out from the thin visible sliver between hoods and parkas. How about a favorite Christmas song performed by some Romani from France, as a flamenco version translated into Spanish, which was originally written by a Russian Jewish immigrant to America? Whether we see our modern society as a melting pot or a mosaic or even a tossed salad, most of us agree on certain virtues that we think about at this time of year. I am thinking about Peace. I am thinking about Joy. I am thinking about Love. I am thinking about Miracles and Magic and Meaning. I am thinking about Beauty, Truth and Goodness. I am thinking about Faith, Hope and Charity.

I am thinking about what traditions I want to pass down to my children. I want my kids to know that I believe we live in an amazing world, full of beauty that goes far beyond mere prettiness, a kind of immanent beauty that may lead us toward the Something More. I want my children to have a personal experience of peace and to care about what it really means to say to one another, "Peace on Earth." I want my children to understand and to cultivate a deep sense of compassion, to care about the welfare of those who are less fortunate than we are. I want my children to understand true generosity. I want my children to have a deeply nuanced, well-educated and well-rounded appreciation of where we come from and where we would like to be going. I want my children to know that I believe in goodness, the true human goodness we see embodied in the world's many shared traditional virtues.

Though the words are specific, the imperative is, I believe, universal:

"4 Charity suffereth long, and is kind; charity envieth not; charity vaunteth not itself, is not puffed up, 5 Doth not behave itself unseemly, seeketh not her own, is not easily
         provoked, thinketh no evil; 6 Rejoiceth not in iniquity, but rejoiceth in the truth; 7 Beareth all things, believeth all things, hopeth all things, endureth all things. 8 Charity never
         faileth: but whether there be prophecies, they shall fail; whether there be tongues, they shall cease; whether there be knowledge, it shall vanish away. 9 For we know in part,
         and we prophesy in part. 10 But when that which is perfect is come, then that which is in part shall be done away. 11 When I was a child, I spake as a child, I understood as a
         child, I thought as a child: but when I became a man, I put away childish things. 12 For now we see through a glass, darkly; but then face to face: now I know in part; but then
         shall I know even as also I am known. 13 And now abideth faith, hope, charity, these three; but the greatest of these is charity." (King James Version, 1 Corinthians 13: 4-13)

Or, as most modern versions have it translated: "faith, hope and love." (New International Version)

I believe that parenthood itself requires me to express Faith, Hope and Love continuously in my relationship with my children. I owe them these things by definition. Parenting a child with Duchenne is not quantitatively different. Yet, our families are different, if only because of the awareness that Duchenne brings on its heels. Duchenne forces us to confront the unconfrontable. It forces us to do the very things listed above: to "suffer long" and be patient, to "bear all things, believe all things, hope all things, endure all things" in the persistent pursuit of a cure. And yet I believe that Duchenne is unsatisfied with us merely loving our sons. Duchenne requires us to work much harder if we want to see a cure. Duchenne requires a translation of our lives that includes Charity as well as Love. Charity is love in action.

Go back to the beginning of the chapter:

"1 Though I speak with the tongues of men and of angels, and have not charity, I am become as sounding brass, or a tinkling cymbal. 2 And though I have the gift of prophecy,
and understand all mysteries, and all knowledge; and though I have all faith, so that I could remove mountains, and have not charity, I am nothing. 3 And though I bestow all
my goods to feed the poor, and though I give my body to be burned, and have not charity, it profiteth me nothing." (King James Version, 1 Corinthians 13: 1-3)

I don't want my faith, my hope, my love and my work for my son to go unrequited. I want my persistence to pay off in the form of a cure. The greatest of these is Charity. Nothing I pass down to my children will have a bigger impact. No holiday gift or symbol could possibly mean more. In fact, it doesn't matter how we translate it, whether we call our action "love" or "charity" as long as we take action. Charity is the way in which we bring all of our personal love, faith and hope into a public form. Charity is the sum of our virtues, embodied and working. Charity never faileth.

No one can do everything, but Everyone Can Do Something. Put your money and your time where your heart is.

Ivy Scherbarth is a Colorado/Wyoming FACES Coordinator for PPMD. Follow Ivy at her blog, Living Duchenne.

What action will you take in 2013?

Sign the pledge.

End Duchenne Gala: 12.6.12 - Recap & Photos

Mon, 17 Dec 2012 15:25:10 -0500

On December 6, 2012, PPMD held its inaugural End Duchenne Gala in New York City. It was a truly remarkable evening thanks in large part to the organizing committee (Catherine Collins, Anessa Fehsenfeld, Janelle Hester, Vicki Singh, and Paula Zenobio) and a room full of compassionate, generous guests...including acclaimed author, Mary-Lou Weisman. Mary-Lou and her husband Larry are founders of Fund for Pete's Sake and she was kind enough to recap the evening for those of you who couldn't join.

Orphan Drug Designation for Myostatin Inhibitor for Muscular Dystrophy

Mon, 17 Dec 2012 13:03:45 -0500

Milo Biotechnology announced that AAV1-FS344 has been granted Orphan Drug designation from the FDA for the treatment of Becker and Duchenne muscular dystrophy. AAV1-FS344 is a gene therapy-delivered myostatin inhibitor that increases muscle strength.

The program is currently in a Phase 1/2 trial in adult patients with Becker muscular dystrophy and inclusion body myositis.

Duchenne muscular dystrophy is the most common inherited myopathy, caused by the absence of dystrophin protein. Becker muscular dystrophy, a less severe form of Duchenne muscular dystrophy, is caused by reduced levels of dystrophin protein. With both types, patients experience progressive muscle weakness, and cardiac and respiratory complications.

For more information visit www.milobiotechnology.com.

Henri Termeer joins Prosensa as Strategic Advisor

Mon, 17 Dec 2012 13:03:09 -0500

Prosensa, the Dutch biopharmaceutical company focusing on RNA-modulating therapeutics for rare diseases with high unmet need, has appointed industry leader and former Genzyme CEO, Mr. Henri Termeer as Strategic Advisor. His role at Prosensa will be to provide input on the company’s corporate strategy and growth plans.
Commenting on his appointment, Mr. Termeer said: “Prosensa has the key ingredients of a successful company in the rare disease community: breakthrough science, a highly motivated workforce and a passionate commitment to improving the lives of patients. I am very much looking forward to working with the Prosensa team.”

Prosensa’s CEO, Hans Schikan, commented: “We are very pleased that Henri is joining the team as a Strategic Advisor. Under his leadership, Genzyme became a world-leading biotech company and a pioneer in rare diseases and orphan drugs. His expertise will be invaluable to use as we drive our products and technology forward.”

Henri Termeer served as Chairman, President and CEO of Genzyme Corporation for nearly three decades. Under his leadership, the company evolved from a mid-sized biomedical company to one of the world’s leading biopharmaceutical companies, especially in the field of rare diseases and orphan drugs. He retired from Genzyme in 2011 following its acquisition by Sanofi in a transaction valued at more than $20 billion. Mr. Termer is also involved in a number of other companies and not-for-profit organizations.

Commenting on the appointment, Mr. Daan Ellens, Chairman of Prosensa’s Supervisory Board, said: “Henri is a luminary in the biotech world, and an expert in rare diseases and orphan drugs. His expertise will be crucial in supporting our goal of developing and commercialising oligonucleotide treatments for rare neuromuscular disorders. We welcome him on board.”

Help us Reauthorize the MD-CARE Act

Wed, 12 Dec 2012 16:49:50 -0500

I am often asked: "How can I help in the fight to end Duchenne?" and "What are things I can do to make a difference?" My answer is always Advocacy.

You are already natural advocates. You began advocating the day you received the diagnosis, or found out someone you cared about was affected by Duchenne. Advocacy takesmany forms. One of the most important ways is the interaction between citizens and those elected to represent them in Congress to change the status quo. For our community, we advocate in the hope of improving the lives of those you love by advancing research, improving care standards, and ensuring the proper resources exist to expedite treatments for Duchenne. A small group of Duchenne advocates have made such a tremendous difference in the lives of so many Duchenne patients and families by telling their stories to those who represent them in Congress.

The cornerstone of our advocacy efforts in Washington has been the MD-CARE Act. First passed in 2001, this banner legislation has been a pivotal piece of the successes we’ve had in advancing the fields of research and care. This bill laid the foundation for the successes we have seen in the last decade, and was reauthorized in 2008 after the community worked hard with members of Congress to ensure its passage.

Here is what has been yielded from our efforts:

Over $400 million has gone into muscular dystrophy research, leveraging additional millions in private investment.
Care Standards have been established and published and are in the process of being disseminated. These standards haveadded 10 years to the lives of those living with Duchenne.
The MD STARnet program has yielded important data on incidence prevalence and burden of cost for those living with Duchenne.
Six (rotating) cooperative MD research Centers of Excellence were established by the National Institutes of Health (NIH). The centers work individually and collaboratively. Each has both basic and clinical research projects, and one or more core facilities to support them.
The public-private Muscular Dystrophy Coordinating Committee, established under the bill, has worked to expand, intensify, and coordinate research activities related to muscular dystrophy.

None of these accomplishments would be possible without the power of your voice. From constituents telling their stories to members of congress to advocating for more money for research, care, and improvements in regulatory processes – patientadvocacy has made a tremendous difference in the fight to end Duchenne. Over the last decade you spoke up and Congress listened. We must continue to raise our voices. We compete with so many others trying to be heard, and in order to remain on the radar of the federal government we must remain vigilant with a consistent message.

Take Action - Tell Congress to Reauthorize the MD-Care Act!

All authorizing legislation must be reauthorized every five years. We are embarking upon another reauthorization year for our bill and need your voice.

How can you help? We’ve put together a landing page that you can share with your family, friends, and neighbors—really anyone who cares about changing the course of Duchenne. Join us in Washington, Add your name to our packet drop, sign up for advocacy alerts – lend your voice to ours!

Please visit our Get Active page page to learn more how you can get involved.

Help us advance clinical trials - faster

Thu, 06 Dec 2012 17:01:11 -0500

This holiday season, PPMD will be funding three projects totaling just over $300,000 to help unlock better and faster ways of advancing clinical trials. Donate today to help make new breakthroughs possible, and your gift will be matched dollar for dollar due to the generosity of the Wagner family!

Webinar Q&A: Cardiac Interventions

Thu, 06 Dec 2012 17:00:30 -0500

Parent Project Muscular Dystrophy recently hosted the second part of our Cardiac Webinar Seriers with Dr. Larry Markham (Children’s Hospital Vanderbilt, Vanderbilt, TN) and Dr. J. Lynn Jefferies (Cincinnati Children's Hosptial, Cincinnati, OH) to discuss cardiac interventions.

Topics included:
When to intervene (parameters for intervening, pros/cons to early intervention)
What meds to use and why (ACE, ARB, Beta blockers, aldactone)

Dr. Markham discussed medical interventions, including beta blockers, ACE inhibitors, angiotensin receptor blockers, diuretics, heart failure medications: what to start, when to start, why to start, actions of the medications, side effects, follow up.

Dr. Jefferies discussied mechanical interventions, including internal cardiac defibrillators (ICD's), ventricular assist devices (VAD's), pacemakers: what are they, when to consider their use, why to consider their use, who should insert the device, pros/cons of each.

There were some great questions asked, but unfortunately we were not able to get to all of them during the webinar. The remaining questions have been addressed below!

Make sure to join us for Cardiac webinar series, Part 3 - The use of Ventricular Assist Devices in Patients with Duchenne in January.

Pat Furlong to speak at Institute Of Medicine Roundtable

Mon, 03 Dec 2012 14:42:18 -0500

PPMD founding president and CEO Pat Furlong, has been invited to speak today at the Institute of Medicine's (IOM) Roundtable on Translating Genomic-Based Research for Health. IOM is holding a public workshop today in Irvine, CA titled "Improving the Efficiency and Effectiveness of Genomic Science Translation." Pat is a member of IOM's Committee on Pediatric Studies and is thrilled to be participating in the discussion "The Role of Advocacy in Facilitating Basic Scientific Research" at this important roundtable.

Upcoming Webinar: Summit, SMT C1100

Mon, 03 Dec 2012 14:42:02 -0500

PPMD is hosting a webinar with Summit plc on Tuesday, December 11 from 1pm to 2pm. The webinar will discuss the Phase 1 Clinical Trial results on SMT C1100 for the treatment of Duchenne as well as outlining the next steps for this utrophin upregulator program. Jon Tinsley, Senior Director of R&D and Richard Pye, Head of Communications at Summit plc will give a presentation and answer questions that have been submitted.

Giving Thanks, Looking Forward

Tue, 20 Nov 2012 16:53:39 -0500

Every Thanksgiving, I find myself with a lot to be thankful for: my family’s love and support, our Duchenne community, and your tireless efforts.

This year is no exception. We’ve accomplished so much together. When I think of all that our community has made possible over the years, all that we’ve done in 2012, and all that we’re doing today, my heart fills with appreciation and gratitude for each and every one of you—for your passion and commitment.

More often than not, the difference between the impossible and the possible is sheer determination. That’s especially true for our community.

Through our hard work and dedication, we’re finally seeing all the moments we never thought we would see. Our sons are walking longer than ever before, they’re graduating from college, they’re getting married, and they’re starting careers and families of their own.

And we’re still going. In 2012 alone, we’ve seen a number of unbelievable achievements. We’ve expanded our partnership with the FDA, holding two important meetings in 2012 to help provide them with the information about Duchenne that they need—about both the disease and the community—to exercise flexibility in the review process. We’ve seen not only a record number of clinical trials but also trials that are showing signs of efficacy and moving forward in the drug approval process. And we have built an unprecedented network of experts in research, drug development, regulatory compliance, and advocacy that are dedicated to helping us achieve our research goals.

Behind this amazing progress are the families and friends like you who roll up your sleeves and do anything and everything you can for people with Duchenne. There are so many ways that we can make a difference for the Duchenne community: from taking part in our advocacy efforts to completing surveys and connecting with others through our FACES groups. And it’s been the combination of all those actions that has gotten us this far.

I know that we can go even further. That’s why I’m asking you—and every member of our wonderful, dedicated community—to join me in a resolution. None of us can do everything, but we can all do something. So pledge to do something in 2013, one small action that will make even more incredible things possible.

Years from now when we look back, I know that we’ll always consider 2012 a year of significant achievements. And with your continued commitment to this community and PPMD’s work, we’ll have even more to be proud of in 2013.

Enjoy a bountiful and healthy Thanksgiving, and thank you for being part of the PPMD family!

Help Protect Federal Spending on Rare Diseases like Duchenne

Tue, 20 Nov 2012 16:53:11 -0500

PPMD Taking Action to Avert Sequestration

Those engaged in federal advocacy probably thought the Prescription Drug User Fee Act and its acronym PDUFA would take the cake in terms of policy jargon. But as the nation's eyes are fixed on Washington to see whether or not the nation will careen over the "fiscal cliff," the term sequester and sequestration is invading the American lexicon.

According to Webster, sequester traces its roots to the 14th Century and is derived from the Latin "sequestrare" which means "to hand over to a trustee." After centuries of obscurity, the term gained new prominence beginning in the summer of 2011, when Congress reached a deal to increase the nation's debt that forced a set of across-the-board spending cuts – or a sequester of such funds – if a committee of a dozen members of Congress – dubbed the "Super Committee" failed to come up with another way to cut between $1.2 to $1.5 trillion in spending over the next decade.

After a few months of work, the Super Committee fizzled and shortly before Thanksgiving last year failed to meet their deadline and find a way to reduce spending by $1.2 to $1.5 trillion. The basic divide was between those opposed to any increases in taxes and those opposed to any cuts in spending, resulting in a chasm that could not be overcome and leaving the nation with the sequester scheduled to take effect in January 2013. In recent months, the number of warnings that the impact of such cuts – divided between defense spending and domestic discretionary or non-entitlement spending – would be devastating to our still fragile economy, have increased as we near the implementation date.

Most importantly to our community, projections estimate that the National Institutes of Health would see its 2013 budget reduced by $2.5 billion, a cut that would result in about 2,400 fewer grants to support research aimed at discovering treatments and cures for a host of conditions like Duchenne.

Other agencies of importance to Duchenne families like the Centers for Disease Control and Prevention (CDC) and the Food and Drug Administration (FDA) would be similarly impacted. All the work our community did to ensure the rare disease provisions were included in the final FDA PDUFA bill would be stalled due to these cuts. The only bright spot of the sequester and its current terms are that Medicaid funding is not on the table.

PPMD is working hard with organizations such as NORD and Research!America to urge lawmakers to take action before Congress adjourns this year to protect vital biomedical research, public health and medical innovation programs vital to continued progress in medical innovation from devastating across-the-board cuts. Over the coming days and weeks, we will continue to closely follow developments on Capitol Hill and take additional actions as necessary to keep our nation from going over the fiscal cliff and to relegate the term sequester back to the history books.

Take Action
Now is your chance to tell Congress that their inaction on a deal could potentially have an enormous negative impact on the lives of you and your family!

JOIN US in telling Congress that they must work together with the President to achieve a balanced approach to deficit reduction.

EndDuchenne eNews: Weathering the Storm

Thu, 15 Nov 2012 16:40:49 -0500

What you'll see in this month's EndDuchenne eNews:

--More research progress as we continue to pursue a mantra of "Better, Faster, Now."

--The groundwork we are laying in Washington, DC, with the FDA with the hopes that promising treatments are understood by federal agencies and accelerated approvals are considered.

--Our commitment to care, making sure parents are armed with the tools they need to help their child.

Representing Duchenne at the Congressional Rare Disease Caucus Briefing

Wed, 14 Nov 2012 16:18:16 -0500

Today, Parent Advocate and Founder of Two Smiles One Hope Foundation, Alison Willis and I represented the Duchenne community at the Congressional Rare Disease Caucus Briefing in Washington, DC. Alison did a remarkable job speaking on behalf of PPMD regarding the Patient Participation in Medical Product Discussions Provision within the newly passed Food and Drug Administration Safety and Innovation Act (FDASIA or PDUFA V).

Thank you, Alison, for lending your voice to ours and representing the Duchenne community!

Remarks by Alison Willis at the Congressional Rare Disease Caucus Briefing
Thank you very much to Congressmen Leonard Lance and Joe Crowley, the co-chairs of the Congressional Rare Disease Caucus, for hosting this important briefing. Also thank you very much to Rare Disease Legislative Advocates (RDLA), the National Health Council, and Shire for organizing this event.

And thank you to all of the staff for taking time out of your busy schedule to attend this session during what we all know is a most eventful week here on Capitol Hill.

As a parent of two boys living with Duchenne Muscular Dystrophy, I am very grateful for the number of provisions contained within the recently enacted FDA Safety and Innovation Act or FDASIA that empower the agency with the authority and tools it needs to more expeditiously review potential therapies for serious and life-threatening conditions, particularly when no other alternative treatments exist.

From provisions to strengthen and enhance existing Fast Track and Accelerated Review authorities to establishment of a new Breakthrough Therapies category to deeper and more robust engagement of outside scientific experts and patients, Congress should be commended for your efforts.

But as you all know, while enacting a bill into law is critical, the devil is in the regulation, particularly on complex FDA topics that will require a host of new guidance.

Before I touch on this key point, I want to first make it abundantly clear what has driven me to commit to advocacy and come to Washington today.

I am a resident of Fayetteville which is a small town in central New York. I am a pharmacist by profession, and my husband Matt and I are the proud parents of three wonderful boys – Caleb, age 13 and 11-year-old twins Nolan and Jack, both of whom have Duchenne.

In addition to advocating with Parent Project Muscular Dystrophy, we have founded a small foundation called Two Smiles One Hope that funds groundbreaking research in the pursuit of treatments and therapies for Duchenne.

Duchenne is the most common form of Muscular Dystrophy, a form that affects almost entirely boys because it impacts the X chromosome. The disease keeps muscles from producing the Dystrophin protein that is essential for building strong muscles. And when muscles cannot rebuild, they slowly atrophy, leading to loss of ambulation and eventually loss of all use.

For years, the only therapy for patients with Duchenne has been steroids,which are not effective for long-lasting improvement and which result in a number of side effects.

While no therapy has yet to be approved for Duchenne, the community and our family is full of hope as nearly 20 potential therapies are in various stages of clinical testing and evaluation, and a number of additional potential therapies are in early stages of development.

This past fall has been a particularly hopeful time, with multiple companies including Summit, Prosensa and Sarepta all announcing promising news.

Perhaps most encouraging is the news from Sarepta that its candidate therapy, Eteplirsen, had produced statistically significant levels of Dystrophin in patients participating in the Phase IIb clinical trial. In addition to showing increased levels of Dystrophin, the study also found a significant clinical improvement as measured by the 6-minute walk test standard.

Both Jack and Nolan participated in this trial. I would love to discuss the details of our experiences during the trial with anyone who is interested after this briefing. The main point I would like to drive home about Eteplirsen is that there is a finite window of opportunity here for these boys. For maximum benefit, it is imperative that these boys receive the drug as early as deemed necessary. As illustrated quite clearly by my own sons' results at the end of the first 24 weeks, there is a tipping point before which Eteplirsen should be dosed. Although Jack and Nolan qualified without issue for this trial, they showed the most deterioration from the start, therefore; their loss of ambulation during the trial came to no great surprise. The progress that the other 10 participants are achieving is phenomenal. They continue to progress to this day.

As you can imagine, this news has left many of us in the Duchenne campaign quite eager and optimistic, particularly as Sarepta prepares to move forward as quickly as possible in submitting its data to the FDA, which brings us right back to the reforms Congress included in the FDASIA law.

While the ball is presently in Sarepta's court as it prepares for the filing, once their application arrives at FDA, it is critical that it be reviewed as expeditiously as possible because no alternative treatments or therapies exist and the disease is 100% fatal. The drug should therefore qualify as a breakthrough therapy. Our community is counting on FDA's "patient-focused drug development" initiative to move these interests forward.

In addition to prompt review, we trust FDA will take into account the views of patients and/or their parents/guardians, in the case of minors, particularly when it comes to the all-important issue of assessing levels of benefit and risk offered by a therapy.

To help better inform FDA on this most important issue, PPMD is developing a survey tool to gather the input from the Duchenne community as to how we see this benefit/risk issue and what levels of risk we would be willing to accept. The findings will in turn be presented to FDA to help inform how they consider reviews of potential therapies by providing a natural history "yardstick" for later comparisons.

What is Duchenne? (Two Moms, Co-Blogging)

Tue, 13 Nov 2012 12:04:25 -0500

What IS Duchenne?
by Pat Furlong

Last year, Ivy and I agreed to write a co-blog. I would introduce Ivy’s or wrap something around what she writes. It was selfish really. I love reading and in my next lifetime, am considering a writing career or maybe a singing career, I have not decided. Don’t laugh. I realize there are a number of things that I will need to include in the ‘ask’, in order to prepare for the next lifetime: things like a talent for storytelling and creativity, a singing voice (my brother Jack asked that I not sing ever… not even Happy Birthday), and that natural musical ability that comes from somewhere deep in the soul.

But in this lifetime, I love reading – especially Ivy’s blogs about Rain, about home, about life, about hope. And while I realized that my writing skills are different than Ivy’s, I love her use of words, her definitions, and the wonderful way she explains the use of a certain word, giving each word a specific purpose and place in our lives. I have long admired her sense of self, her selflessness, and her creativity. She has the ability to make sense of a world in which she is both a new member and one with history. I love how she is able to capture our imagination and talk about things and situations we all have in common, as if we are all sitting around the fireplace, barefoot and comfortable; the room filled with the smell of warm chocolate chip cookies and fresh flowers; sharing our stories, our worries, our dreams. In so many ways, I see Ivy as the teacher, the person guiding the discussion, a visual image of the therapeutic dose of hope.

I agree that Duchenne is not to be framed as a disease (see Ivy’s blog which follows). Our children are not sick in the sense of feeling awful, lying on the couch with symptoms of flu or of some contagious disease. Rather Duchenne is a misprint of the genetic map for muscle which results in weakness of muscle – all of it – skeletal, smooth, and cardiac. Our sons need assistance (some more, some less) depending on the degree to which their muscles have responded and interpreted the misprint. Granted, it is no small misprint, but Duchenne is better represented as a condition or a disorder. It makes it no less serious, but perhaps more understandable, or even somehow gentler, especially when explaining the term to our sons and daughters.

I could not say the word ‘dying’ in reference to my sons. That word rattled around my brain once Duchenne entered my home. But I just could not form the word, would not form that word, especially not around Chris and Patrick. One day, long ago, one of Patrick’s friends, Johnny asked me about an article he read about Duchenne. He commented that the article said Chris and Patrick were dying. He looked at me, tears in his eyes, and said ‘I didn’t know they were sick.’ I closed my eyes, fighting back tears as well, and realized how much I loved my children’s friends, how much I took for granted, the way they understood Duchenne. I loved the fact that they knew Duchenne was a part of Chris and Patrick’s lives, an unwelcome participant for sure, but they refused to allow Duchenne to interfere or interrupt their lives.

Duchenne is a GIANT word to be sure. It crashes into our homes, our hearts, and changes to some degree the map of the life that was supposed to be. But it does not change our sons. They are exactly who they should be.

And our collective energy is spent around End(ing)Duchenne: to accelerate treatments, to do whatever is necessary to ensure that they have a toolbox at their disposal (a fistful of prescriptions, capable physicians, and local resources). To give them a future – the opportunity to grow into middle age and beyond.

Thank you Ivy! If there is anyone in the world I would like to write a book, it is you.

Pat Furlong is the Founder and President of Parent Project Muscular Dystrophy. Follow Pat at her blog.

Duchenne: Disease or Disability?
by Ivy Scherbarth

Sometimes the way in which we define a word can change our whole perspective on life. Without resorting to the dictionary or the internet, how do you define Duchenne? Is it a disease or a disability?

The word "disability" implies for me a chronic condition, either lifelong or acquired, which cannot be eliminated, only compensated for. A disability is part of a person's identity. It is a thing that you live with, a thing you work around but do not escape. It is integral to the person who has it; it's in our deepest layers of being, literally in the very makeup of our bodies. A disability is a different way of doing things. It is a different way of moving in the world, or thinking, or functioning, or feeling. It is something that contributes to what makes you special and unique. A disability is something to be confronted, manipulated, dealt with, but ultimately, accepted.

To my mind, a disease is something else entirely. A disease is something that happens to you. A disease means that something has gone wrong. We have been attacked from the outside. When you have a disease, you're sick. People say to you, "you're not looking yourself today, sweetie. You'd better go lie down and I'll bring you some tea." A disease has symptoms that make you feel bad. When you're sick, people send you flowers and get well cards, and then you do get well and you're fine again, just like you were before you got sick. A disease is something that, if you do the right things, will someday go away. It is a transient overlay on top of the self, something to be transcended and vanquished. A disease is something from which to be recovered. A disease is meant to be cured.

To me, Duchenne is a disability. There is no separation between my son and Duchenne. There was no "before Duchenne" for Rain. Not only was he born this way, he has been this way since my egg developed in my womb before I was born. In fact, Rain's body is functioning perfectly according to the set of instructions that he has in his unique DNA. It's just that his DNA is a tiny bit different from the other boys in our neighborhood. There's nothing wrong with him when you compare him only to himself, rather than comparing him to other people. And who wants to be compared to other people? It's not Rain's fault that he has Duchenne. It isn't something that happened to him. He didn't contract it. It isn't contagious. Duchenne is a part of our family history, just like brown eyes and dimples. Just like myopia and crooked teeth. Maybe Rain will need to compensate for some of his genetic heritage by wearing eyeglasses when he's older. Maybe he'll need a wheelchair and a lift and a special van and an IEP.

These are ways to compensate for parts of us that we would find more convenient if assisted. None of this is meant to change fundamentally who we are. Rather, these compensatory devices exist merely to make our challenges easier to cope with. I love my glasses and I am very grateful to be able to see things but when I take my glasses off I'm still me. Putting my glasses on does not restore me to a previous self that existed before my eyes went blurry. Rain's wheelchair gives him a lift when he needs one but it doesn't take away his Duchenne.

This is not to say that I don't hope for a cure for Duchenne. I do. But when I think "cure," I'm not thinking of a magic pill that will make Duchenne disappear forever. Perhaps I lack imagination. Rather, I am hoping for a wonderful toolbox, a drug and assistive technology regime that will keep our boys on their feet, moving around, hearts beating and lungs working easily, hugging their families, enjoying middle age and beyond. I'm hoping that someday, when a kid gets his new diagnosis, which will always happen just because of the nature of genes and life on earth, that his family will be given some information on local accessibility resources and fistful of prescriptions. His family will know that, with careful maintenance, this chronic condition can be mitigated and life can go on, maybe not in exactly the way it did before, but with limited disruption, for a long time. Whether Duchenne is ultimately a disease or a disability, our boys, perfect just the way they are, deserve nothing less.

Ivy Scherbarth is a Colorado/Wyoming FACES Coordinator for PPMD. Follow Ivy at her blog, Living Duchenne.

What's your perspective?
How do you define Duchenne? Share your thoughts in the comments!

Cedars-Sinai research: Preclinical muscular dystrophy data shows promise

Tue, 13 Nov 2012 12:03:07 -0500

LOS ANGELES — Nov. 7, 2012 – Cedars-Sinai Heart Institute researchers have found that an experimental compound may help stem the debilitating effects of muscular dystrophy by restoring normal blood flow to muscles affected by the genetic disorder.

The researchers studied HCT 1026, a new type of molecule in which nitric oxide is chemically attached to a standard anti-inflammatory agent, in a preclinical model of muscular dystrophy. Results suggest HCT 1026 may be beneficial for the treatment of Duchenne muscular dystrophy, which begins in early childhood, and Becker muscular dystrophy, which often occurs later in adulthood.

Preliminary results were presented in April 2012 at the experimental Biology meeting and now the full study is published in the Public Library of Science (PLOS ONE) and is available online.

Both forms of muscular dystrophy are caused by problems with a protein called dystrophin, which helps maintain healthy muscles. If patients have less dystrophin protein or if their body manufactures dystrophin protein that does not function correctly, their muscles cannot work properly and eventually become permanently damaged. As diseased muscles weaken over time, patients gradually can lose their ability to walk, sit or use their muscles in other ways. There is no cure now for either form of the disease.

“There is an urgent unmet need for effective therapeutic options for this devastating disease,” said Ronald G. Victor, MD, director of the Cedars-Sinai Center for Hypertension in the Cedars-Sinai Heart Institute and the Burns and Allen Chair in Cardiology Research. “If we can improve blood flow in muscular dystrophy patients, we may be able to preserve some muscle function over a longer period of time.”

HCT 1026 dramatically improved blood flow in muscles used during exercise by dystrophin-deficient laboratory mice who share the same genetic defect as humans, Cedars-Sinai researchers found. The compound may have accomplished this by delivering nitric oxide, a key molecule involved in many physiological functions and found at reduced levels in dystrophic muscles.

The compound fully restored blood flow to affected muscles within the first month of treatment and the impact was completely sustained for three months without any noticeable adverse side effects.

Authors of the study said the results represent a step in the quest to find an effective treatment for muscular dystrophy that will reduce muscle wasting as well as slow the progression of the disease.

“Based on our previous work, we think the ability of HCT 1026 to release nitric oxide is the key to restoring muscle blood flow in dystrophin-deficient mice,” said Gail Thomas, PhD, a lead author of the Cedars-Sinai study. “HCT 1026 is an interesting prototype which allowed us to investigate the potential of this family of molecules in muscular dystrophies. While we do not expect these nitric oxide-donating compounds to cure the disease, our hope is that the improved blood flow could reduce muscle fatigue and injury, allowing patients to be more active while slowing down the loss of vital muscle.”

The study was performed in collaboration with scientists at Nicox in Bresso (Italy) and Sophia Antipolis (France).

The work was supported by grants from the National Center for Advancing Translational Sciences in the National Institutes of Health (Grant #UL1TR000124), the Center for Duchenne Muscular Dystrophy, UCLA Muscular Dystrophy Core Center (Grant # P30AR05723) and Nicox Research Institute.

You're Invited - End Duchenne Gala

Tue, 06 Nov 2012 15:59:09 -0500

Please join us for the first annual End Duchenne Gala on December 6, 2012 from 7:00 pm - 12:00 am at the Metropolitan Club in New York City, NY.

When a child is diagnosed with Duchenne muscular dystrophy the family is devastated. The news is overwhelming and seemingly without hope. Their first question is, "What’s next?”

Parent Project Muscular Dystrophy knows there is no simple answer to the questions, but we also know the Duchenne field is ripe with opportunity – ready for investment – and primed for results. Parent Project Muscular Dystrophy knows there is hope.

The End Duchenne Gala will celebrate current research advancements and help raise funds for upcoming research that will help us change the future for those living with Duchenne.

Cocktails • Dinner • Silent & Live Auction • Special Entertainment

Partnering with the FDA to accelerate approvals- The question of risk tolerance in the Duchenne community

Wed, 24 Oct 2012 14:41:48 -0400

Background
Friends, we have been actively pursuing a regulatory strategy and have had two meetings with the neurology division at the FDA. We are currently working on the 'to do' list for the community and are trying to understand barriers/obstacles to approval from the FDA side, as well as, from the sponsor side of the issue. We are working a smart, targeted call to action. We have learned through years of advocacy that the most successful approach is to make sure what we are asking is consistent throughout the community.

During the FDA rare disease open meeting in May, Janet Woodcock said - FDA weighs the evidence presented, but at the end of the day, it is often a value judgment about benefit to the patient with a high unmet medical need. During a round table conversation with Dr. Katz, he was asked about the perception that he was 'risk adverse.’ He explained that he views risk on a scale and used a cancer example at one end and migraine headache at the other end. Basically, he said that when someone is dying within a period of six months, he would accept a 50/50 risk. At the other end of the scale, where there is a chronic condition and no imminent threat of death, he would be risk adverse. So that said, in this last meeting we had a similar conversation where our goal was to make sure the neurology division understood that Duchenne, while not exactly in the same category as a stage 4c cancer diagnosis, causes boys to peak in function at age 7–10 (depending on steroid response) and then lose function, so that each loss, each small negative change should be viewed as a 'little death,' from the boy's perspective as well as the increasing burden in terms of required care. A degenerative disease is not at all the same as a chronic disease and should be much closer to the cancer end of the scale than to the migraine end.

Taking Action
The first step is for this community to weigh in on this benefit/risk equation. As we speak, PPMD is setting up a survey that is in development and will be posted next week. YOU will have the opportunity to weigh in on risk/benefit and include your own personal story about your situation.Presenting this data to FDA will provide compelling arguments and rationale for the FDA to grant accelerated approval to compounds that demonstrate safety and efficacy.

We have learned, success with our advocacy is the result of a single, compelling message. While every family wants and needs treatment for their son, our message is about successfully navigating the regulatory process in order to get drugs approved – these first candidates currently in trial and all others to come. We are consulting with experts from communities that have been effective in getting drugs approved, as well as, combination therapies.

We are exploring opportunities with our regulatory advisors and consultants. We are currently organizing meetings with companies to ensure we adequately understand the barriers they face and will come to all of you with an overall strategy and plan for discussion and opinion. In November, we will collect risk/benefit and personal stories –either text or video. In December, we will lay out a comprehensive strategy for review and discussion. This may also involve contacting your members of Congress.

We have to be measured, strategic, and effective. We can do this. This community has gotten legislation passed and reauthorized, $500 million federal dollars which galvanized research, incentivized industry, and brought us to this moment. Our conversation has changed and we are now focused on a regulatory strategy. We must work together. Our sons are worth it.

This Thursday, October 25, PPMD will participate in the FDA open meeting, this time to respond to a call for public comment. This is part of the PDUFA V reauthorization that PPMD worked so hard to pass in 2012.

The FDA's notice invites public comments on the preliminary list of disease areas and requests that those who propose additional disease areas for consideration describe how they applied the criteria identified by the FDA. On first glance, we might suggest Duchenne should be at the top of this list, as it certainly fits the criteria outlined below. If you think about it, you might imagine FDA has more than 1,000 disease specific advocacy organizations making the same request. It seems to make more sense to potentially achieve the same goal by focusing on pediatric muscle disease which exactly fits the criteria and provides FDA the ability to accomplish the stated objectives of the patient-focused drug development initiative. We are working with other rare disease groups in order to have the same message to the FDA. They have agreed to review 20 diseases within the 5-year authorization period. That will not be sufficient time to review the many disease indications that exist, thus the reasoning for combining similar diseases that all have similar characteristics.

Those key targets are made clear in the FDA's public notice – a thorough understanding of the severity of the treated condition and the unmet medical needs so as to set the context of regulatory decision making in regards to benefit and risk.

Disease areas that are chronic, symptomatic, or affect functioning and activities of daily living
Disease areas that reflect a range of severity – While the patients with each of these life-shortening disorders are very severely affected, the individual patients with each of them experience a range of severity in such factors as age of onset of symptoms, rate of progression, age at which full-time assistance is needed for activities of daily living, and age at death – those ‘little deaths’ that occur with loss of function
Disease areas for which aspects of the disease are not formally captured in clinical trials
Disease areas that have a severe impact on identifiable subpopulations (such as children or the elderly)
Disease areas that represent a broad range in terms of size of the affected population
Disease areas for which there are currently no therapies or very few therapies, or the available therapies do not directly affect how a patient feels, functions, or survives

We feel that this is the best strategy to move the needle for the disease in order to properly educate the FDA on the risk benefit analysis. At the same time we will be analyzing our own study of the community. Please continue to stay engaged. PPMD will be keeping you informed – in the next week we will be contacting you with the survey we mentioned, as well as, requesting your personal stories to better educate those who make decisions on therapies for Duchenne within the FDA. We will then lay out the plan moving forward.

We are excited for the progress made to date with our community, we must continue this momentum, and with your help, we will do what it takes to end Duchenne.

Learn more
Sign up for Action Alerts
Connect with PPMD: Facebook, Twitter, and Community site

Pat Furlong, Founding President, CEO
Read more PPMD Staff Blogs

Prosensa Announces Progress on Exon Skipping Compounds for the Treatment of Duchenne

Tue, 23 Oct 2012 17:07:25 -0400

Prosensa, the Dutch biopharmaceutical company focusing on RNA-modulating therapeutics for rare diseases with high unmet need, has selected clinical candidates for two more compounds for the treatment of Duchenne muscular dystrophy (DMD) and has been granted orphan drug designation for two additional DMD compounds in its pipeline.

Prosensa identified suitable oligonucleotide candidates for PRO052 and PRO055, designed for the skipping of exons 52 and 55 of the dystrophin gene. PRO052 and PRO055 are currently in pre-clinical development and will be moved to clinical trials as soon as possible.

Prosensa has also received orphan drug designation by the European Commission for PRO045 and PRO053. These compounds are designed to skip exons 45 and 53 of the dystrophin gene and are expected to enter clinical development within the next 6 months. In parallel, Prosensa and GSK have initiated a large global natural history study in order to generate important data on the progress of DMD that will help to facilitate the development pathways for these compounds.

Together with drisapersen (PRO051/GSK2402968) and PRO044, already in clinical development, the Prosensa portfolio of six DMD compounds has the potential to treat more than 40% of all DMD patients.

Hans Schikan, CEO of Prosensa, commented: “Achieving orphan drug status for PRO045 and PRO053 is an important milestone that we believe will allow us to accelerate development of these compounds and initiate clinical trials within the next half year. While GSK has an option to license one compound, PRO045 or PRO053, the other compound will be developed and eventually commercialized by Prosensa in our ambition to become a fully integrated biopharmaceutical player in rare diseases. Together with PRO052 and PRO055, where the same principle applies, Prosensa will be in a position to target rare mutations in specific DMD subpopulations and may provide treatment to more patients with this debilitating disease.”

Prosensa has the most advanced portfolio of drug candidates for the treatment of DMD, and has also preclinical compounds for Myotonic Dystrophy and Huntington’s Disease. Prosensa’s DMD compounds are based on its proprietary exon-skipping technology that uses antisense oligonucleotides to restore expression of a functional dystrophin protein and to provide potential treatment for patients affected by this progressively debilitating neuromuscular disease.

October End Duchenne eNews

Tue, 23 Oct 2012 17:07:00 -0400

Catch up on the latest research and community updates, including what PPMD has been up to lately, in this month's End Duchenne eNews. Also meet our Featured Voice for October, 20-year-old Ryan "Wheelz" Schmidt.

ImagingDMD: Making muscle biopsies a thing of the past

Tue, 16 Oct 2012 10:03:05 -0400

In the clinical trial world, there are some things that divide us these days- most specifically, what mutation type your son has. However, we are united in wanting better ways to look for the benefits of potential drugs; who isn’t hoping for a day when the muscle biopsy is a relic from the past?

There are several dedicated research teams doing exciting work to evaluate different ways of measuring changes to muscles. At PPMD, we’ll work hard to keep the community up-to-date about these efforts as results become available. We are also working hard to encourage sponsors of clinical trials to measure changes to muscles by means OTHER than the muscle biopsy, whenever possible.

Your family can help us move closer to a goal of no more muscle biopsies, as well as learning a lot about muscles in Duchenne. The ImagingDMD study is looking for a few more good “men;” specifically, they are looking for males between 5 and 14 with Duchenne. At their first visit, participants must be able to walk roughly the length of a football field by themselves. Boys in the study can be on steroids, or not. The study sites are at the University of Florida, Children's Hospital of Philadelphia, Oregon Health and Science University, Shriners Hospital for Children-Portland, and the University of Pennsylvania. PPMD has provided financial support for this important study.

At our 2012 Connect Conference, we heard from a panel of children and teens about participating in research. One thing uniting these guys was that they were all in the ImagingDMD study. You may remember their positive comments about being in this trial. As the moderator, I was impressed by their enthusiasm for the study and the study teams—the word “fun” was even mentioned more than once!

Please visit the study website at ImagingDMD.org to learn more, or to contact the research teams at each site. The “about” section has a clear explanation of what your son would do if he was in the study.
Learn More
ImagingDMD Recruitment Ad (via DuchenneConnect)
ImagingDMD.org

Management of End Stage Heart Failure: Ventricular Assist Devices (VAD)

Tue, 16 Oct 2012 10:03:22 -0400

In light of PPMD’s Cardiac Webinar Series, our Director of Care, Kathi Kinnett answers questions/concerns about Ventricular Assist Devices (VAD).

There has been recent discussion worldwide regarding the use of ventricular assist device therapy in patients with Duchenne/Becker muscular dystrophy (Duchenne/Becker). This discussion is in its infancy; very few patients to date have had a device inserted. Ventricular assist device therapy has potential benefit in a select group of people, including patients with Duchenne/Becker, but it is not without significant risk.

A “ventricular assist device (VAD)” is a mechanical pump that is connected to the heart in order to support its function. The type of device that would be considered in individuals with Duchenne/Becker is a “left ventricular assist device (LVAD)”. It works by assisting the ill heart in pumping blood from the left ventricle to the body.

Generally VAD therapy is used as a “bridge to transplant” (after the heart is too weak to support the body and until a donor heart for transplant is found). In some patients, a VAD could be used as “destination therapy.” What this means is that the device is implanted in an individual who is not a transplant candidate with the intent that the device will be in place for the remainder of their life. Not all people are good candidates for a device. Previous abdominal surgery, liver, kidney, or lung disease may be contraindications. Given the risks associated with the use of the device (outlined below) this option should only be considered when the individual is experiencing significant symptoms and only after all other options (such as medications) have been thoroughly exhausted.

Insertion of a VAD is a major surgical procedure requiring general anesthesia and requires recovery in the intensive care unit. The patient and the family will need significant education as to how to care for the device once it is in place.

VAD therapy remains associated with significant risks. Complications of VAD placement may include:
Bleeding – this may require re-operation and is a common occurrence
Stroke (both hemorrhagic and ischemic)
Infection
Arrhythmia
Respiratory failure
Kidney failure
Liver failure
Hemolysis (break down of red blood vessels)
Blood clots within the pump
Re-hospitalizations
Development of right sided heart failure or air embolism during surgery

Following VAD placement, the patient will be managed on numerous medications. These medications will help support heart function and help reduce clotting.

There may be unique issues regarding VAD use in the patient with Duchenne/Becker that are currently unknown. Both the upcoming cardiology webinars and the cardiology workshop will address the use of VAD therapy in Duchenne, as well as many other issues. We will keep the community informed as more information becomes available.

Full 48-week Phase IIb data from eteplirsen study in Duchenne presented at World Muscle Society

Tue, 16 Oct 2012 10:01:47 -0400

Dr. Jerry Mendell, Director of the Centers for Gene Therapy and Muscular Dystrophy at Nationwide Children's Hospital and principal investigator of the Phase IIb eteplirsen study, presented the full set of 48-week data from Sarepta at the World Muscle Society (WMS) Congress in Perth, Australia on Friday, October 13. This presentation includes greater detail around the full Phase IIb study results.

Additional data presented at WMS included:

Individual patient data on the primary endpoint of change in dystrophin-positive fibers from baseline;
Additional biochemical findings including RT-PCR and western blot images from selected patients;
Additional information on the two patients in the 30 mg/kg cohort who showed a rapidly progressive decline on the 6-minute walk test and were excluded from the analysis; and
A summary of treatment-emergent adverse events comparing eteplirsen-treated patients versus placebo, which demonstrated that eteplirsen was well-tolerated through 48 weeks of treatment. No treatment-related adverse events, serious adverse events, or treatment discontinuations related to eteplirsen were observed. In addition, no treatment-related changes were detected on any safety laboratory parameters, including several biomarkers for renal function.

We look forward to the Sarepta webinar on October 23, where your questions will be answered by the Sarepta team. Learn more about the upcoming webinar.

Learn more
Read the full presentation of 48-week data from Dr. Mendell
Read Holly Peay’s blog about what this data may mean for the community.
Read Sharon Hesterlee’s blog about what exon skipping success means for those with Duchenne unaffected by exon skipping.

Better, Faster, Now!

Thu, 11 Oct 2012 13:19:19 -0400

These are the words that best describe PPMD’s research plan. We aim to put better drugs into development for clinical trials because we can’t afford the failures, we apply funding strategically to increase the speed of testing new drugs, and we prioritize and fund the testing in Duchenne of drugs that are already approved for other purposes. Everything we do goes through this filter to make sure that we are achieving one of these aims and our actions and funding history demonstrate this commitment.

Better: For example, in the interest of putting better drugs into clinical development, I recently took part in a meeting sponsored by the National Institutes of Neurological Disorders and Stroke to address the reasons why animal data was not translating efficiently into good drug candidates for various diseases. The group concluded that many studies are not conducted with the appropriate degree of rigor and that replication of studies is important. That report, of which I am one of the authors, includes recommendations for increasing the rigor of preclinical animal studies—it appears in today’s issue of Nature. As I write this blog we are also in the process of adapting PPMD’s grant applications to request that applicants address the issues highlighted in this report even more explicitly than they have done in the past.

In addition to increasing the rigor of our reviews to improve the quality of drug candidates, we’ve used a multi-pronged strategy that includes collaborating with the TREAT-NMD TACT expert committee for review, a strategy that we’ve been invited to present at the upcoming FasterCures partnering meeting. And we continue to fund the laboratory of PPMD Scientific Advisory Committee Chair Dr. Lee Sweeney to replicate findings published in the scientific literature by others. This strategy has proved increasingly important as more and more groups are reporting that the vast majority of studies published in the scientific literature cannot be replicated and should not be relied upon as the basis for human clinical trials (see Believe it or not: how much can we rely on published data on potential drug targets? and Drug development: Raise standards for preclinical cancer research).

Faster: We also want to see better drugs approved faster. To increase the efficiency of clinical trials we have provided travel awards to sites involved in both the Shire/Acceleron study and the Sarepta Eteplirsen study to help cover costs, such as childcare, that may not be allowed by institutional review boards. We also developed the DuchenneConnect patient registry, which sends out notifications to those eligible for clinical trials at the request of companies and academic investigators.

Now: Finally, to take advantage of the potential of drugs that are already approved, we have vigorously investigated the possiblity of repurposing drugs approved for other uses by directly supporting clinical trials of approved drugs Cialis/Viagra and Eplerenone, based on animal studies funded by PPMD that showed these drugs were promising (see our Investigator grant to Stan Froehner, Ph.D. and Bridge grant to Jill Rafael-Fortney, Ph.D.), and by forming a working group with the purpose of reviewing all the data on Duchenne published to date to prioritize other approved drugs for testing in Duchenne.

We know that the fight to end Duchenne is a race against time. But we also understand that there is little to no room for error in this journey to treat people with Duchenne. That is why we will continue to instill this philosophy of Better, Faster, Now any time we consider supporting potential therapies.

PPMD’s Sharon Hesterlee Featured in Nature Magazine

Thu, 11 Oct 2012 13:09:35 -0400

In an article published in the most recent issue of Nature magazine called, “A call for transparent reporting to optimize the predictive value of preclinical research, “ PPMD’s Senior Director of Research, Dr. Sharon Hesterlee helps take a look at reasons why animal data was not translating efficiently into good drug candidates for various diseases.

Webinar Q&A: Monitoring Heart Disease in Duchenne and Carrier Moms/Daughters

Wed, 10 Oct 2012 16:59:24 -0400

Parent Project Muscular Dystrophy recently hosted the first part of our Cardiac Webinar Seriers with Dr. Linda Cripe (Nationwide Children’s Hospital, Columbus, OH) and Dr. Kan Hor (Cincinnati Children's Hosptial, Cincinnati, OH) to discuss monitoring heart disease in Duchenne and carrier moms/daughters. There were some great questions asked, but unfortunately we were not able to get to all of them during the webinar. The remaining questions have been addressed below!

Positive Phase 1 trial results for SMT C1100 (Summit PLC)

Wed, 10 Oct 2012 14:49:10 -0400

Following closely on the heels of the good news about Sarepta’s exon 51 skipping strategy, PPMD is pleased to report that Summit PLC has been able to achieve sufficient plasma levels of its reformulated utrophin-upregulating drug to justify a phase I/II trial in Duchenne (Read Summit's Press Release). At PPMD we have always believed in “hedging our bets” and investing widely in different therapies, some of which are mutation specific and some of which are not. Unlike exon-skipping strategies, upregulating utrophin is not a mutation specific strategy and, if effective, could potentially benefit anyone with Duchenne. To date we have funded the screening and identification of a utrophin upregulating compound at PTC Therapeutics, which is now in the preclinical validation stage; Tivorsan’s biglycan compound which seems to work by concentrating utrophin at the muscle cell membrane; and we contributed $250,000 to Summit PLC to fund the manufacture of its reformulated utrophin-upregulating compound SMT-C1100. Some of you may recall that the SMT-C1100 had been acquired by Biomarin who gave the drug back after they were unable to achieve high enough plasma levels of the drug with the original formulation and Summit struggled to find support to reformulate the drug and try again.

The Summit PLC project is unique in that so many different funders in the Duchenne world came together to support it and we all worked together to share our reviews and information (with full permission from the company). Other significant funders of this project included Charley’s Fund, Cure Duchenne, the Foundation to Eradicate Duchenne, the Muscular Dystrophy Association, and the Nash Avery Foundation. Never doubt that this community can make a difference—a phase I/II Duchenne trial with this drug is only possible due to the support of the community.
Learn more
Summit's News Release

Medical Alert Bracelets for Duchenne

Tue, 09 Oct 2012 12:50:42 -0400

For several years now, there has been the question of, “Where is the best place to get medical bracelets” and “what should they say?” Finally, I think we have an answer.

“Lauren’s Hope” started out as “You Name It,” and began as a fun little business making personalized gifts for women and children. They were approached by Lauren’s Hope for A Cure to make medical ID bracelets. The medical alert line became so popular, that they changed the name of the company to “Lauren’s Hope.” While they started out focusing on diabetes, Lauren’s Hope quickly learned of the tremendous need for medical alert bracelets for all medical conditions. Today, their products are available for men, women and children of all ages and diagnoses, and their product line consists of everything from bracelets to dog tags to temporary tattoos.

Several PPMD parents strongly endorsed Lauren’s Hope, saying that the company was responsive and easy to work with, the products are durable and the engraving is deep enough to last. We contacted Lauren’s Hope and they have generously agreed to work with our community.

There was much discussion regarding what is most important to engrave. Please keep in mind that the information on the jewelry is primarily for “first responders” (fire department, EMT, etc.) We are recommending that the following information is engraved:

Name, birthdate
Phone number, allergies and medications:
This will indicate that there are either No Known Drug Allergies (NKDA) or that there are Known Drug Allergies (+KDA), and that the patient is on medication (+MEDS)
No inhaled anesthesia

The engraving will look like this:
JOE SMITH 05/23/99
3215609880 NKDA (or +KDA) +MEDS
NO INHALED ANESTHESIA

To order visit LaurensHope.com. The company has generously offered to give our community a 10% discount on all merchandise. The discount code is “DUCHENNE.”

Thanks to Doug Biggar and Ivy Scherbarth for all of their help and expertise!

Understanding Accelerated Approval

Tue, 09 Oct 2012 12:50:05 -0400

With the recent news of Sarepta's promising 48-week data, many have asked how accelerated approval may play into the FDA review of eteplirsen. Let's first define what accelerated approval means.

Because it often takes years to assess whether patients truly benefit/improve from a particular drug or if the drug shows a "meaningful clinical outcome", in 1992 the FDA instituted accelerated approval allowing approval based on a surrogate end point. This applies to diseases with an unmet medical need, like Duchenne. Approval of a drug based on such endpoints is given on the condition that post marketing clinical trials verify the anticipated clinical benefit.

FDA rules state that accelerated approval indicates that acceptable/validated clinical endpoints have been met, that the trial(s) was adequate/well controlled, that FDA has received NDA application/reviewed it/agreed with sponsor analysis, AND that sponsor has agreed to post approval trial to confirm outcome (not just repeating surrogate findings).

Questions obviously remain. How will the newest version of PDUFA (Prescription Drug User Fee Act) factor into this review? The reauthorized bill (an important piece of FDA legislation that the community rallied behind this year) contained provisions strengthening accelerated review. It also contained a provision to work on speeding up the development of "breakthrough therapies" that demonstrate early promise. How these are applied remains to be seen. PPMD and others in the community are wanting answers and will work tirelessly to get them so we have as much clarity as possible on the path forward.

*Be sure to check out our upcoming webinar with Serepta where participants have the opportunity to ask questions directly with the company. We encourage you to submit questions prior to the webinar via email (info@parentprojectmd.org).
This is an exciting time for the Duchenne community. On their recent call with investors on October 3, Sarepta's CEO Chris Garabedian stated their intent to discuss accelerated approval with the FDA at their meeting later this year. Though the community is anxious to move things along faster, much of this will depend on that meeting and how the FDA views the data.

We all eagerly await the results from the full data presentation by Sarepta at World Muscle Society next week. And we will make sure you stay abreast of the role you can play.

Learn More:
FDA.gov: About the Accelerated Approval Program
PPMD’s Board Approved FDA Policy
Webinar explaining PDUFA legislation
Blog explaining all provisions PPMD endorsed within PDUFA

Save the Date: Q&A Webinar with Sarepta

Tue, 09 Oct 2012 12:49:32 -0400

Sarepta Therapeutics has asked PPMD to host a webinar on Tuesday, October 23 at 1pm eastern to discuss the 48-week results from their ongoing Phase IIb clinical trial of eteplirsen with the Duchenne community. This comes after early results were released yesterday.

Promising News from Sarepta on Exon 51 Skipping Trial

Wed, 03 Oct 2012 19:03:08 -0400

The much-anticipated 48-week results on eteplirsen, a drug designed to skip exon 51, were presented today by Sarepta Therapeutics on a webinar and press release. On the webinar, Sarepta’s Chief Executive Chris Garabedian presented data about the dystrophin found in study participants’ muscle biopsies and the 6-minute walk results.

To read some background about this clinical trial, click here.

An overview of the data reported today:
Chris presented results from the phase IIb study, which continued into an open-label extension study. The data that they presented included:
the change in dystrophin positive fibers, which was the primary endpoint for the clinical trial, and
the change in the 6-minute walk test, which was the primary clinical endpoint for the open-label extension part of the clinical trial.

There are 12 people with Duchenne in this clinical trial. For the first 24 weeks, they were randomly chosen to get 50mg/kg of eteplirsen, 30mg/kg of eteplirsen, or to be on placebo. They are now all in the open-label extension study, and all 12 are now getting either 50 or 30mg/kg of the drug.

The 48-week data shows that:
The children treated with eteplirsen have significantly more dystrophin-positive fibers in their muscles (with an average 47% increase for those who have been on drug for 48 weeks), and the number of dystrophin-positive fibers has increased over time as the children are on the drug longer. Children who started out on placebo and who are now on the active drug also show improvement in the number of dystrophin-positive fibers.

Children on the drug also improved in the 6-minute walk test. Children on drug had an average 21 meter improvement in their walk test, while children on placebo had a decline of 68 meters.

The data don’t yet tell us clearly whether 50mg/kg is better than 30mg/kg.

Children who were younger when the trial started, as well as those who had better walk test scores when the trial started, seemed to have more benefit from the drug. The two children who lost the ability to walk during the trial also had more dystrophin-positive fibers over time. However, this is a very small study and not all of the data has been analyzed, so it is too early to say who is most likely to benefit and how.

There were not any treatment-related adverse events during the study, which adds important information about the safety of the drug.

What's next?
Sarepta is still working on the analysis of this data and will present more information at the World Muscle Society meeting. They will also be presenting their information to the PPMD community on October 23rd at 1:00 pm Eastern- come learn more and ask your questions!

In the meantime, Sarepta is getting prepared to talk to the FDA about the results and discuss next steps. They are hoping to make a case for accelerated approval of Eteplersen. (PPMD continues to be in constant communication with our partners in Washington about the role of patient advocacy in this process. We will alert the community about actions that should be taken. Make sure you're signed up for our action alerts!) They are also starting to plan for a phase III/confirmatory trial. They understand that the community is likely to be negative about a trial that includes a placebo group after such promising results from this phase II study, and are trying to come up with trial designs that do not include a placebo group and that are acceptable to the FDA. They are also working on another important issue, which is scaling up their production so they can make enough of the drug to give to people in the confirmatory clinical trial (and hopefully, later to any person with Duchenne who would benefit from skipping exon 51).

For more details about the findings, read Sarepta's news release.

Also read Beyond Exon 51, a blog from PPMD's Senior Research Director, Sharon Hesterlee, explaining how an exon 51 success can benefit all people with Duchenne, regardless of mutation.

We are hopeful and very enthusiastic about these promising findings. We will keep you updated on what we learn at the World Muscle Society meeting, and please tune in for PPMD’s webinar with Sarepta on October 23rd at 1:00 pm EST.
Learn more:
Sarepta's Press Release
Attend our webinar with Sarepta on October 23rd at 1:00 pm EST
In A First, An Experimental Drug May Help Boys With Muscular Dystrophy (Forbes article, quoting PPMD's Scientific Advisor, Dr. Lee Sweeney)
Beyond Exon 51
2011 Webinar (Sarepta was previously known as AVI BioPharma)
Sign up for Action Alerts

The Global Genes Project

Wed, 03 Oct 2012 19:02:23 -0400

Jeans. Genes. Thursday night, I changed from jeans into a blue dress – as in blue jean blue. The recommended color for the R.A.R.E. Gala. The focus was genes, rare genetic disorders. While most of my days are focused on Duchenne, I am very aware that Duchenne is 1 of 7,000 rare diseases.

R.A.R.E. includes more than 30 million Americans and 85% of those 30 million are children. Just outside the ballroom were photographs of people with rare diseases. Some of the names of the diseases were familiar, as I have met many families over the years: moms, dads, sisters, brothers, uncles, aunts, friends who love a person with a rare disease. They all remember the exact date and time when this new word, this diagnosis, broke down the door of their home, and interrupted the life they were planning to live.

There was a little girl, about 2, SMA type 1, immobile and in a vent. Another little girl of about 7, mobile, but unable to communicate, Phelan-McDermid Syndrome, suggested to be the genetic cause of autism. A boy with Fragile X Syndrome. And so many more.

The photographs and the people told the story of unmet needs, of parents and families feeling isolated and alone, and of HOPE – the belief in biomedical research, scientific opportunity, and treatment. And also, the HOPE of connection.

I stood staring at the pictures, watching the families, in tears. The mantra in my head... Children should not be sick. They should have opportunities and dreams. And every child I met was smiling, happy, deeply loved. It was quite an evening.

I accepted an award for advocacy, but the award does not belong to me. It belongs to all of us and especially to our children. They smile in the face of a diagnosis that brings us to our knees. They teach us about hope, about living each day, about appreciating the gifts we have. They teach us the real definition of strength.

I walked up to the podium, humbled by the evening… I started off saying:
I am very grateful and honored to be part of this amazing celebration. It is an honor to be in the presence of my personal hero’s such as Dr. Emil Kakkis, Brad Margus, and John Crowley and so many of you sitting in this audience.

Duchenne muscular dystrophy is a RARE disease. Perhaps medium rare…

Approximately 250,000 individuals in the world are diagnosed as having Duchenne muscular dystrophy.

Approximately 12,000 of those individuals live in the United States.

To be honest, Duchenne affects millions of people – the diagnosis of Duchenne or any RARE disease refers to an individual, but the impact of that diagnosis ripples through families, neighborhoods, schools, and communities. Everyone in the world is touched by a RARE disease.

Duchenne muscular dystrophy is x-linked, which means that Duchenne primarily affects boys and young men. Women can be carriers (I am one of them) and some of them are symptomatic.

My sons Christopher and Patrick were diagnosed with Duchenne in 1984. They died on September 29 and April 29, in 1995 and 1996, 7 months apart-to the day and to the hour.

The ‘Duchenne gene’ is the largest gene in the human genome, with 79 exons and 2.5 million base pairs. Mutations occur across the gene and result in the loss of a structural protein called dystrophin. Dystrophin plays a critical role in muscle. It acts as a shock absorber, an organizer, and a regulator. Without this protein, muscle cells are unable to survive.

As babies, most parents would never recognize signs or symptoms of Duchenne as they are subtle. These wonderful boys gain skills such as sitting upright and walking as anticipated, though sometimes there are slight delays. Most of the time, if mom or dad expresses concern, the delays are dismissed by pediatricians and family doctors.

Once diagnosed (and even before) the clock starts. Over the next 20 years, they will lose the skills they worked so hard to gain. At 16, when their peers think about driving, young men with Duchenne are typically unable to walk even a step. Soon after, they will be unable to throw their arms around someone they love. By their 20s, most of the everyday things we take for granted (feeding, personal needs, scratching our nose) will take extraordinary effort or become impossible. Keep in mind, the heart is a muscle too and by the age of 30, it will fail.

Because all of us are RARE, we face the same challenges.

Finding our gene. Understanding the pathophysiology of the condition – what is missing because of the genetic mutation? Identifying targets for potential intervention and repurposing drugs or developing new drugs. We have to think about addressing clinical variability and standardizing care. Understanding progression and collecting natural history studies with sufficient rigor for FDA. Developing clinical trials in small populations and thinking ‘out of the box’ about adaptive designs to include patients across the spectrum of the condition (in Duchenne – ambulatory and non). And progress may be slowed and difficult because of absence of biomarkers and validated outcome measures, the recognition that success or failure of clinical trials depends on primary outcomes or surrogate measures, and data statistically relevant for approval.

We need and advocate for regulatory authority – for the FDA to understand that RARE is complicated and flexibility will be required- that it is may sometimes be difficult to ‘tease’ out benefit in the context of a clinical trial and that vehicles such as conditional approval (Europe) and accelerated approval (US) need to be in embraced and post marketing studies required if we are to understand benefit from a given compound. This year, in particular, we, the RARE disease community, worked on this legislatively with PDUFA5 and FDASIA.

And for all of us to discuss benefit /risk in the context of rare disease – what is the risk tolerance and where do we set the ‘bar’ for benefit. I would have been grateful for 5 additional minutes with my sons.

And approvals, TREATMENTS: the holy grail and the recognition that our work is not complete until we are able to ensure ACCESS for all who may benefit from a given therapeutic intervention.

I cannot imagine how it would feel to know about a therapy, something that might change the predicted outcome for someone you love and to be denied access – for whatever reason.

This is why we are here. This is why we need each other and depend upon each other. WE are RARE and together, we are louder, stronger, more visible, more effective.

I’m often reminded of the story Horton Hears a Who. Horton, the elephant knows that size doesn't matter – whether you're as big as an Horton or as small as a speck, RARE is all of us. We ARE the people of Whoville and we may be tiny but if you will remember the story of WHOVILLE:

Their voices were heard. They rang out loud and clean.
And the elephant smiled, “Do you see what I mean?”
They proved they ARE persons, no matter how small (rare).
And THE whole world will be saved by the smallest of all.

My deepest thanks for this wonderful award.

A person’s a person, no matter how small…or how RARE. Thank you. God bless and Godspeed to all of us.

And as I walked off that podium, I whispered a prayer to Chris and Patrick, thanking them again and again for the journey.

PPMD awards $50,000 to multi-exon skipping project

Wed, 03 Oct 2012 19:01:34 -0400

We are so happy to support the work of Dr. Toshifumi Yokota at the University of Alberta, in Canada. Exon skipping looks promising as a viable therapeutic for Duchenne. Dr. Yokota is taking the process several steps forward by experimenting with skipping multiple exons. If successful, a large percentage of the Duchenne population could be effectively treated. PPMD has long supported the development of exon skipping and this project will lay the groundwork for the next generation of exon-skipping. Congratulations to Dr. Yokota, and thank you!

Implementing PDUFA

Wed, 03 Oct 2012 19:00:30 -0400

With Congress decamping from Washington and not expected to return until after the November election, we thought we'd revisit one of the few bright spots of bipartisanship this Congress – the enactment of the latest FDA user fee law (PDUFA), known as the FDA Safety and Innovation Act or FDASIA. (Washington loves a good acronym).

Earlier this year PPMD helped lead an effort supported by a number of other organizations like Genetic Alliance, National Down Syndrome Society, and the Everylife Foundation for Rare Diseases to include within FDASIA key rare disease provisions intended to expedite review of potential treatments.

These provisions:
Modify and improve the FDA's Accelerated Review and Fast Track programs to enhance their use and provide clearer guidance on the use of surrogate endpoints; (surrogate endpoint (or marker) is a measure of effect of a certain treatment that may correlate with a clinical endpoint)

Provide FDA with greater ability to engage medical and scientific experts who posses knowledge and expertise the agency may lack internally;

A path forward to enhance direct patient engagement with FDA in key medical product review discussions and to better understand and recognize concerns, particularly from rare diseases advocates, regarding the balance between potential benefits and risks; and

Establish a new Breakthrough Therapy designation designed to further expedite review of potential therapies.

PPMD is grateful that Congress included all of these rare provisions. But as all of you know, while enacting an idea into law is a major accomplishment, it's far from the end of the road, particularly on complex regulatory topics like this. Over the coming months and even years, FDA will be tasked with drafting guidance and other proposed regulations that will provide the specific details of how these provisions will be implemented.

In comparing the process to constructing a building, the provisions of the law lay out the key elements – how tall the building will be, what it will look like, etc., but the regulations and guidance will stipulate the details – floor plans, critical infrastructure, and the like – that are essential to the project.

PPMD will be working with our champions in Congress and fellow patient advocacy organizations to engage throughout the process. This work will include ensuring FDA meets its deadlines, meeting with senior agency officials, reviewing and commenting on draft documents and, ultimately, ensuring the provisions are implemented as Congress and the advocacy community intended them to be.

Parent Project Muscular Dystrophy awards $280,000 for cardiac gene therapy to University of Missouri

Tue, 18 Sep 2012 15:29:42 -0400

Yesterday, we announced that the University of Missouri’s Dongsheng Duan, Ph.D. was awarded a grant of $280,000 by PPMD to continue his work with SERCA2a.

We all know how important a healthy heart is, especially in Duchenne. And because you thought with your heart and cheered on Olympic hero Ryan Lochte by giving to the Go for the Gold campaign this summer, we were able to continue our support of Dr. Duan’s important work. So thank you…Together, we went for the gold and made it happen!

About the project
The heart is a muscle too. This is something we stress over and over again in our fight to end Duchenne. Talented researchers like Dr. Duan understand that the best therapies in the world will do patients no good if their hearts can't handle the therapy. Therefore, this research will give us the building blocks we need to eventually create wholly successful therapeutics that patients can withstand.

Dr. Duan and his team at the University of Missouri want to determine if delivering the gene for the calcium-handling protein SERCA2a is sufficient to correct cardiac disease in mdx mice or if the dystrophin gene must be delivered as well. This is important information since SERCA2a gene therapy is in human testing now for non-Duchenne related cardiomyopathy.

Heart failure is a leading cause of death in people with advanced Duchenne. Through the course of the disease, heart function is progressively compromised by calcium overload and inadequate transport, which leads to cell imbalance, dysfunction, and death. SERCA2a is a calcium ion pump that may be able to reduce the damage caused by calcium overload.

Learn more
Press release
PPMD's Funding Portfolio
Donate Now

Dispatch Article about Serepta Trial

Tue, 18 Sep 2012 15:28:51 -0400

New article from The Columbus Dispatch about Serepta's eteplirsen trial.

September End Duchenne eNews

Tue, 18 Sep 2012 15:28:38 -0400

With school back in session, we have some important information for you on flu vaccinations, medical alert bracelets, and a downloadable webinar on IEPs. We are also launching a three-part webinar series on cardiac issues featuring the most knowledgeable cardiologists in the Duchenne space.

AgeView Press names PPMD President Pat Furlong a 'Belle of Steel'

Tue, 18 Sep 2012 15:28:25 -0400

In 1969, a young, single Catholic woman graduated from college with a double major, nursing and education. She was bubbly and vivacious with her curly brown locks. It was remarkable to the nuns of the all-girls Catholic college who had told her she would never make a nurse. Her social priorities overshadowed her academic prowness. At her graduation party, her parents asked her what she wanted for her present. She looked over at her fiancé, directly. “More than anything else, I want not to be engaged.” She stunned the room to silence.

This is just one example of the “I dare you to say no” dogged tenacity of Pat Furlong. Motivated by a German mother who was a silent feminist before her time, Pat moved out of her parent’s home in Cincinnati, Ohio shortly after. She moved to Columbus, got her first job as a nurse in the Medical Intensive Care Unit and started graduate school at Ohio State. She just had to learn more about this fascinating thing called the body. She wanted to know how each cell worked implicitly with the others. For the first time, Pat felt free and independent. And it was liberating!

Pat Furlong is now the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), now the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy. Its mission is to improve the treatment, quality of life, overall care and outlook through research for all individuals affected by this monstrously degenerative, childhood disorder. Duchenne is the most common fatal, genetic disease which affects 1 out every 3,500 boys each year worldwide. It currently has no cure.

But Pat Furlong and her team are working to change all that. In 1984, when both of her boys were diagnosed with Duchenne, Pat simply could not accept as a mother and as a nurse, the physician’s “there’s no hope and little help. . .they’ll lose the ability to walk, then lose their upper arm strength, then. . lose their life by age 20.” She wasn’t afraid to tell any doctor just what she thought. Their answers were not good enough.

Pat’s nursing journey had taken her from the bedside, to patient educator and advocate. Garnering her gumption Pat immersed herself in learning everything there was to learn about Duchenne. There was no internet, she physically went to medical libraries and ordered articles and copies of research studies. She presented herself, not as the teary-eyed mother of two dying boys looking for a miracle. She knew better. No, Pat got her foot in many doors, by selling her advocacy as a post-graduate student on a mission of research. Sadly, there seemed to be no general concensus or standard of care about just what were the best treatment options. Everyone seemed to be doing their own thing. It was appalling. Funding for research was minimal. No one wanted to hear about a rare genetic disorder.

But for Pat, it wasn’t rare, it was destroying her boy’s muscles, one cell at a time. And time was running out. Tragically, both her boys lost their battle with Duchenne in their early teens. But that didn’t stop Pat. In fact, standing over their graves, she decided there and then she would not stop until there was a cure. She remembered her boys telling her, “don’t do it for us, do it for the many. Miracles aren’t just for one.”

Pat began gathering people around her to ask the tough questions. With each visit to each expert she asked, “What do we know? What do we need to know? What’s the standard of care? Who’s doing something about it? And most importantly . . . who’s investing?” At point in time, the Muscular Dystrophy Association was only investing about a one million a year. That simply wasn’t enough to fund a cure. Many feds, the movers and shakers in DC had never even heard of the disease. It wasn’t on the National Institute of Health’s radar screen because it was a rare disorder. There were many that told her “just go home.”

But Pat wouldn’t give up. She had to do it. She promised her boys. The defective gene had been isolated back in 1987, but yet there still was no cure. Pat transformed all of the pain and anger that resulted from profound grief into an unrivaled, energized force. A DC lobbyist had contacted her; his son was diagnosed with Duchenne’s. Pat turned to him for advice on how to get Washington to notice. Gathering a group of other parents of young men with Duchenne, Pat founded PPMD to change to course of this disease.

In 1996, they put on the first-ever NIH workshop on Duchenne, harnessing a consortium of experts from around the world. Earning seed funds, they hired a powerful team of DC lobbyists. There was legislation needed to garner increased funding for research. In 2001, Senator Arlen Specter took note. PPMD drafted the MD Care Act, laying out plans for Centers of Excellence to establish standards of care across the nation.

One of our Texas DMD boys, advocate Sam Killian.

Pat’s perseverance for her sons paid off. The legislation passed in Feb of 2001 infusing over 400 million dollars in pivotal Duchenne research. The NIH took notice which gave researchers a credibility factor. The moment was literally life changing for many. In 2010, in the medical journal The Lancet, 180 physicians published a consensus of care considerations for Duchenne. But the work still is not done. Pat has bigger plans. During the next few crucial years of research, as drugs are developed to genetically re-engineer the destructive forces of Duchenne, Pat hopes to see herself smiling. Her goal is to see more development in combined therapies for Duchenne, more early diagnosis and thus earlier intervention. She dreams to see boys still walking at 17 and 18. More extension of life expectancy into the middle thirties, maybe forties.The New Yorker named Pat a World Changer in 2010. WebMD designated her as a World Health Hero the same year. She is a top leader at the Institute of Medicine and the FDA.

When asked what makes her successful, Pat describes, “I’m a consummate pest! If I want something and I know it’s right, I just will not give up. The pain of losing your children has a ripple effect that lasts forever. Not a day goes by that I don’t miss my boys. I channel that pain into productivity.”

For Pat, indeed the mission and the message aren’t over. For her unbridled passion and stoic, gutsiness to move mountains in a sea of bureaucracy . . . all to save our boys, AgeView Press is proud to honor Belle of Steel number four – the truly amazing Pat Furlong.

Update from Summit on their Duchenne drug development strategy

Thu, 06 Sep 2012 16:58:50 -0400

Biotechnology group Summit’s (LON:SUMM) new strategic focus on commercial development rather than early-stage research will increase the chance of success at its flagship drug programmes, according to Singer Capital.
The firm is to focus its attention on the development of two drugs – one for Duchenne Muscular Dystrophy, the other for C. difficile infections.
It will end discovery-stage research, which will affect around half the company’s workforce.
House broker Singer said the Summit had a very busy first half with the appointment of a new chief executive and considerable scientific and commercial progress as SMT C1100 (DMD) entered Phase-I trials and SMT 19969 (C. difficile) moved towards the start of Phase-I trials by the end of 2012.
Chief executive Glyn Edwards said: “Summit has two promising clinical stage programmes targeting areas of high unmet medical need and this change in strategy is intended to provide the company with greater focus and resources to accelerate their development.
“Our aim is to provide best value for our shareholders by developing high-value franchises in the DMD and C. difficile therapy areas and seeking to maximise the therapeutic and commercial potential of these two programmes.”
Summit said it “remains enthusiastic” about the potential of second generation immunosugars, or Seglins for short, and in particular the OGA inhibitor programme.
OGA, or O-linked N-acetylglucosaminidase, segues very neatly into the latest research on Alzheimer’s.
Two new studies seem to show it spreads like an infection from brain cell to brain cell.
But instead of viruses or bacteria, what is being propagated is a distorted protein known as tau.
“The OGA programme will continue to progress as planned through to an important technical milestone after which the company will evaluate its options for taking this forward,” the company said this morning.
“Summit will however be unable to sustain the general development of Seglin technology or other programmes and will seek alternative ways for realising value from these assets.”
The most advanced of Summit’s portfolio is SMT C1100 for DMD, a fatal and thankfully rare genetic muscle wasting disorder that affects boys.
Today Summit said it will “seek to expand partnerships with leading academics, clinicians and community advocacy foundations” to support the development of SMT C1100.
This potentially first-in-class utrophin upregulator is currently in a Phase I clinical trial.
Results are expected by the end of the year. Its highly potent anti-biotic SMT 19969, meanwhile, is expected to enter clinical trials by the end of the year.
As would be expected of a company at this stage in its development, Summit posted a loss for the half year to July 31. The shortfall was £1.7 million.
It had cash of £4.8 million at the period-end following a £5 million fundraising.
This money provides a ‘cash runway’ for the company through to third quarter of its 2013 and possibly into 2014 following the restructuring, said Singer.
The broker added it maintained its positive view on the stock and awaits further progress

Why should you join our team?

Thu, 06 Sep 2012 14:52:52 -0400

With the 5th annual Coach To Cure MD right around the corner, we wanted to tell you why you should make this the year to show your support for one of the biggest national awareness campaigns in the Duchenne community. And we wanted you to hear it from families that have participated since the beginning...

The flu vaccine and Duchenne: What you need to know

Thu, 06 Sep 2012 14:52:34 -0400

Yes, summer is winding down, and the welcoming of fall brings many things – cooler weather, wonderful fall colors, the beginning of school and, unfortunately, the start of flu season. Every year, thousands of people get the flu. While it can be an inconvenience for some, the flu has resulted in thousands of deaths. A recent study shows that children with underlying neurologic disorders, like Duchenne, are at especially high risk of pulmonary complications and death from the flu.

The CDC (Center for Disease Control and Prevention) has joined with The American Academy of Pediatrics, Families Fighting Flu and Family Voices to spread the message about the importance of influenza vaccination to protect our children.

The influenza vaccine, or “flu shot,” is an injection into the muscle, usually given in the upper arm or thigh. The flu shot contains inactivated (dead) virus and is recommended for patients with neuromuscular diseases and patients taking chronic steroids. Because the virus is dead, there is no risk of getting the flu from the flu shot. (The “nasal spray flu vaccine” contains living virus, and is NOT recommended for people with neuromuscular diseases.)

The flu shot for 2012-2013 will protect against 3 kinds of viruses: influenza B, influenza A (H1N1) and influenza A (H3N2). The most common side effects from the flu shot are pain at the injection site, low-grade fever, slight tiredness, and mild generalized muscle soreness. These side effects are most common in children getting their first flu shot, and will go away on their own within 1-2 days.

The best time to get vaccinated is as soon as it is available in your community. It takes about 14 days for the body to build up antibodies for the 3 viruses in the vaccine. Those antibodies will protect against those 3 flu viruses.

PPMD wants to keep both you and your family safe and healthy. So you can enjoy the good parts of fall!

Links
CDC Press Release: Children with neurologic disorders at high risk of death from flu
HealthMap Vaccine Finder
Sign up for PPMD's eNews

Tackle Duchenne

Thu, 30 Aug 2012 14:48:16 -0400

We are one month away from the fifth annual Coach To Cure MD! Over the past four years, you have helped us reach the $1 million mark, as well as raise awareness about our fight to end Duchenne. We want to make 2012 another milestone year. Join the Coach To Cure MD team in one of three easy ways.

Low oxygen boosts stem cell survival in Duchenne therapy

Wed, 29 Aug 2012 17:16:05 -0400

One approach to improving muscle strength in Duchenne is to replace unhealthy muscle cells that lack dystrophin with donor stem cells that have normal levels of dystrophin. These cells might come from a relative unaffected by Duchenne or even a person with Duchenne’s own cell, after dystrophin is restored though a technique like gene therapy.

Although we’ve heard much more in recent years about drug approaches to therapy, work continues to better understand how to use stem cells to restore muscle tissue. In a new article from Purdue, Dr. Shihuan Kuang describes how stem cell therapy would work for Duchenne and his discovery that mimicking the environment in the muscle is the best way to grow healthy muscle stem cells in culture dishes.

An open letter from Chris Garabedian, president and CEO of Sarepta Therapeutics

Tue, 28 Aug 2012 16:39:35 -0400

An open letter from Chris Garabedian, president and CEO of Sarepta Therapeutics with an update on their clinical program for eteplirsen.

Clinical Trial Update: GSK2402968 (drisapersen) for Exon 51 Skipping

Tue, 21 Aug 2012 16:10:00 -0400

GlaxoSmithKline (GSK) recently announced that one of their clinical trials (Study DMD114044) for exon 51 skipping has completed recruitment. This trial is a phase 3, randomized, double blind, placebo-controlled study to assess the efficacy and safety of GSK2402968 in patients with Duchenne. GSK is currently conducting four clinical trials to investigate the efficacy and safety of GSK2402968. Two of these studies have sites in the United States (DMD114876 and DMD114118). DMD114876 is currently recruiting patients at 14 different sites across the United States.

End Duchenne eNews: Go for the Gold

Tue, 21 Aug 2012 16:09:44 -0400

Catch up on the latest research and community updates, including what PPMD has been up to lately, in this month's End Duchenne eNews. Also meet our Featured Voice for August, 18-year-old Sean Quigg, founder of Spaghetti Arms.

Beyond Exon 51

Tue, 21 Aug 2012 16:09:29 -0400

As Sarepta (formely AVI) announces promising results from its phase II interim data and GSK follows up its promising phase II data with a phase III study, things are looking good for an exon-skipping based therapy for Duchenne…if you happen to be in the 13% of those with Duchenne who have a mutation that can be improved by skipping exon 51. But for the other 77% of families out there dealing with other types of mutations including other deletions, duplications or point mutations, what does an exon 51 success mean? PPMD's Senior Research Director, Sharon Hesterlee, explains how these studies can benefit all people with Duchenne, regardless of mutation.

Standardizing Duchenne care

Wed, 08 Aug 2012 13:22:51 -0400

Standards of care are critical for ensuring that everyone with Duchenne receives a similar baseline level of care. PPMD's Director of Clinical Care, Kathi Kinnett provides an update on our efforts to establish a clear, consistent message of care for parents, providers and industry.

Progress on Duchenne via antisense exon region skipping

Wed, 08 Aug 2012 13:22:01 -0400

A different approach to exon skipping: Editing out a whole stretch of exons (45 to 55) could improve genetic function in any patients with mutations in the stretch.

Pat Furlong named one of the PharmaVOICE 100

Thu, 02 Aug 2012 17:29:27 -0400

Congratulations to PPMD President & Founder Pat Furlong for being named one of the PharmaVOICE 100! This is an incredible honor and we are so proud of Pat for being recognized as an inspiring part of the healthcare industry and one of the biggest forces in the global Duchenne community.

Join us for Walt Disney World Marathon Weekend!

Thu, 02 Aug 2012 17:29:12 -0400

Registration is now open for the 2013 Walt Disney World Marathon Weekend Run For Our Sons team! 2013 marks the 20th anniversary of the Full Marathon, which means a new race course and a very special commemorative medal. We'll have teams racing in the Half Marathon, Goofy Challenge and 5K race as well. The 5K includes a Stroller Division, which is open to runners and walkers pushing strollers and wheelchairs!

Celebrating Our Olympic Hero

Wed, 01 Aug 2012 11:14:37 -0400

If you asked me if I could swim, I might say ‘more or less’. Translated, that means that somewhere long ago I took some lessons, that are now lost to memory and in some strange way in my ‘muscle memory’ and adapted for the few times I have access to a pool. For some of us, the ‘more or less’ approach is what we do. Paddle around the shallow end, jump or dive off the board with sufficient confidence that we can manage some to resurface and rotate our arms, randomly kick our legs until we reach the edge of the pool. In my head, that’s called swimming. But my definition of swimming and Ryan Lochte’s definition of SWIMMING are worlds apart.

In 2008, I spent some time with Ryan Lochte, who then was a six-time Olympic medalist with three gold, two silver and one bronze. Ryan, the swimming champion was in Washington as a champion of the re-authorization of the MD CARE Act. And he did just that, used his strength for Duchenne.

Friday is Ryan’s birthday. He’s already struck Olympic gold – the first gold medal for the US actually! – and in our hearts he will forever be a hero of this community. Help celebrate Ryan’s birthday by:

Making a donation to his Go for the Gold fundraising page
Texting JEAH to 90999 to make a $5 donation
Leaving a thank you message on PPMD’s Facebook page. We’ll pass them on to Ryan on Friday.

In a recent interview, Matt Lauer asked Ryan to write the headlines. Ryan smiled and said “Ryan Lochte takes over’. I’m adding my voice to his – TAKE OVER RYAN, win the Gold. Thanks for making a difference in the world of swimming and in our world of Duchenne.

Expected Ryan Lochte Events & TV Coverage on NBC

Mon, 30 Jul 2012 17:17:09 -0400

We compiled a list of expected Ryan Lochte events & TV coverage on NBC. Cheer Ryan on and thank him for supporting the fight to end Duchenne... Text JEAH to 90999 to make a $5 donation.

Request for Applications for the next competitive round of the Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers

Mon, 30 Jul 2012 17:16:44 -0400

See all News

Expected Ryan Lochte Events & TV Coverage on NBC
We compiled a list of expected Ryan Lochte events & TV coverage on NBC. Cheer Ryan on and thank him for supporting the fight to end Duchenne... Text JEAH to 90999 to make a $5 donation.
July 30, 2012 | Read more

Request for Applications for the next competitive round of the Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers
The purpose of this Funding Opportunity Announcement (FOA) is to publicize the re-competition of Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Centers (MDCRCs). These Centers promote collaborative basic, translational and clinical research and provide important resources that can be used by the national muscular dystrophy research communities.

End Duchenne eNews July 2012

Thu, 19 Jul 2012 09:37:52 -0400

In this month's newsletter, you'll find several highlights from the 2012 Connect Conference. We also feature Jack and Nolan Willis, 10 year old twins with Duchenne who participated in our panel about clinical trials from the patients perspective.

Go for the Gold with Ryan Lochte

Thu, 19 Jul 2012 09:37:37 -0400

Olympic star Ryan Lochte lost a member of his family to Duchenne muscular dystrophy. Ryan is dedicated to the fight to end Duchenne and hopes wants you to join him. This summer, as he swims for us in the 2012 Olympic Games, Ryan is challenging us to "Go for the Gold” and raise money for research projects (SERCA2a and tamoxifen) that we believe will help all of our sons dream Olympic dreams, and one day see those dreams come true.

Action Alert! Contact your Senators to help save vital Duchenne programs at the CDC

Tue, 10 Jul 2012 11:31:32 -0400

We need your voice to help save critical Duchenne related programs at the CDC! Efforts to consolidate these activities threaten to slow down the gains we have made in treating Duchenne. In May we asked everyone to reach out to their member in the House of Representatives on this issue. Now it's time to contact your two Senators! Deadline: Friday, July 13

Landmark FDA legislation becomes law

Tue, 10 Jul 2012 11:31:19 -0400

PPMD applauds the President for signing into law the Prescription Drug User Fee Act (PDUFA) also known as The Food and Drug Administration Safety and Innovation Act. This is a major win for the Duchenne community as well as the rare disease community as a whole. We are grateful to everyone who helped by contacting your members of Congress to educate them on the importance of the provisions we championed. Your voice made all the difference!

NIH and NCATS Accepting Proposals for TRND Program

Mon, 09 Jul 2012 10:12:52 -0400

The National Center for Advancing Translational Sciences (NCATS), Division of Preclinical Innovation, intends to publish an opportunity for research on the following: The NCATS Therapeutics for Rare and Neglected Diseases (TRND) program performs preclinical and early clinical development of new drugs for rare and neglected diseases, and develops new technologies and paradigms to improve the efficiency of therapeutic development for these diseases. Learn more about applying: http://grants.nih.gov/grants/guide/notice-files/NOT-TR-12-007.html

AVI BioPharma and PPMD team up for Rock 'n' Roll Seattle Marathon

Thu, 21 Jun 2012 09:57:20 -0400

Run For Our Sons (PPMD's endurance program) is teaming up withAVI BioPharma in Saturday's Rock 'n' Roll Seattle Marathon to raise money and awareness to help end Duchenne!

AVI and PPMD have a long history of working together to develop treatments that may help to prolong the lives of those living with Duchenne. We have always been grateful to the dedication AVI has shown to the Duchenne community as they continue to work on treatments that will help our sons live longer, stronger lives. Now they are taking that dedication a step further by lacing up their running shoes and pounding the streets of Seattle to help raise awareness and end Duchenne.

Participating alongside the AVI team are 20 other runners, includingConrad Reynoldson, a 25-year-old man living with Duchenne (pictured right). Conrad is the only person to have participated in the Rock 'n' Roll Seattle Marathon & Half Marathon in a power wheelchair. 2012 will mark his second year competing in the race.

"I am always looking for new and innovative ways to raise awareness and funds for PPMD as well as the broader disability community," said Conrad. "Last year when I heard that no one in a power chair had ever participated in this race, I realized this was a perfect opportunity."

The Run For Our Sons team fundraising goal for the Rock 'n' Roll Seattle Marathon & Half Marathon is $25,000.

"Perhaps over time Run For Our Sons can become Run With Our Sons as more of us adults and young men with Duchenne take charge of our futures," said Conrad.

Run For Our Sons began in 2005 with 80 runners at the Walt Disney World Marathon. Since then the program has grown to encompass most major marathons around the country, with hundreds of runners participating each year. Since its founding, the Run For Our Sons program has raised more than $6 million to fund PPMD's work.

Learn more

Patients driving direction of new drug research

Thu, 21 Jun 2012 09:56:39 -0400

PPMD President Pat Furlong spoke at this week’s Biotechnology Industry Organization (BIO) convention in Boston this week, which allows patients and patient groups the opportunity to meet with pharmaceutical companies and regulators. Pat was featured in this front page article in the Boston Globe.

End Duchenne eNews - June 2012

Fri, 15 Jun 2012 11:03:01 -0400

It's time to connect! Catch up on the latest research and community updates, including what PPMD has been up to lately, in this month's End Duchenne eNews. Also meet our Featured Voice, Elizabeth Heller. Elizabeth is the rarest of the rare - a woman with Duchenne. She's telling her story and using her voice so that people know that while Duchenne tends to predominantly affect men, women can be affected as well.

PPMD Leads Critical Letter for Rare Disease Community

Fri, 15 Jun 2012 11:02:26 -0400

Parent Project Muscular Dystrophy (PPMD) has teamed up with EveryLife Foundation for Rare Diseases and Genetic Alliance to galvanize the rare disease community and send a strong message to Congress to ensure the most important provisions for the rare disease community were included in the final Prescription Drug User Fee Act (PDUFA) legislation. The provisions are aimed at accelerating Food and Drug Administration (FDA) review of therapies to treat rare diseases and to enable FDA to more aggressively engage external experts in reviewing candidate therapies.

New Cardiomyopathy Study for Duchenne Recruiting in Ohio

Wed, 13 Jun 2012 09:50:46 -0400

This study is taking place at two sites in Ohio: The Ohio State University (OSU) in Columbus and Cincinnati Children's Hospital Medical Center (CCHMC). Three visits to the study site will be necessary, at baseline, 6 months and 12 months. Interim blood draws at 1, 3, and 9 months can be done at any convenient lab. There is funding to help cover travel costs. Approximately 40 males with Duchenne will be enrolled in this study. Participants will be randomized to receive either the study drug, an aldosterone antagonist called eplerenone, or a placebo. Both will be taken by mouth, once a day for 12 months. Cardiac magnetic resonance imaging and blood tests will be performed to assess clinical outcome measures.

Summit achieves SMT C1100 Phase 1 dosing milestone

Wed, 13 Jun 2012 09:50:24 -0400

Summit today announced that it has successfully passed a milestone in the Phase 1 trial of SMT C1100 for the treatment of Duchenne Muscular Dystrophy, which triggered the final payment from a $1.5 million funding agreement with US-based DMD organizations, including Parent Project Muscular Dystrophy. SMT C1100, an oral small molecule compound, is a potential disease-modifying drug that works by increasing, or upregulating, the amount of a naturally occurring protein called utrophin. The Phase 1 dose-escalation study in healthy volunteers was initiated in May 2012 and will now progress to the stage where participants receive multiple doses.

2012 Connect Conference: Last Day to Book Hotel!

Fri, 08 Jun 2012 12:10:02 -0400

Today - Friday, June 8 - is the last day to take advantage of PPMD's hotel room block for the Annual Connect Conference in Ft. Lauderdale, FL, June 28 - July 1, 2012. Today is the day to book your room for this important event...and save some money! There will be no further extensions granted by the hotel and no guarantee that you will get a room at our hotel if you do not book TODAY.

All Sites Now Recruiting for GSK Exon 51 Skipping Trial

Thu, 07 Jun 2012 15:34:53 -0400

The purpose of this study is to determine if GSK2402968 is effective in the treatment of ambulant boys with Duchenne resulting from a mutation thought to be corrected by exon 51 skipping. Two doses of GSK2402968 and placebo will be used in this study. This study is sponsored by GlaxoSmithKline (GSK).

Webinar: New approaches to treating inflammation

Mon, 04 Jun 2012 11:38:55 -0400

Parent Project Muscular Dystrophy welcomes Dr. Michael Jirousek from Catabasis as our guest for a webinar on June 6, 2012 at 1pm eastern. This presentation will describe the science and rationale behind CAT-1004, a novel, anti-inflammatory agent being developed by Catabasis as a potential treatment for patients with Duchenne. Please note: Unfortunately we will not be able to record this webinar, so make sure to join us LIVE.

Upcoming Webinar: New approaches to treating inflammation

Thu, 31 May 2012 11:40:10 -0400

Summit initiates Phase 1 trial of SMT C1100

Thu, 31 May 2012 11:39:47 -0400

Summit has officially initiated the Phase 1 trial of SMT C1100, a small molecule that increases the production of a protein called utrophin that studies suggest can compensate for the loss of dystrophin when present in greater than normal amounts. PPMD is proud to support this trial.

PPMD endorses Senate version of Prescription Drug User Fee Act (PDUFA) after patient voice strengthened

Thu, 24 May 2012 15:54:45 -0400

As the U.S. Senate continues debate on legislation that seeks to accelerate delivery of safe and effective therapies to patients and to increase the patient voice as part of the therapy review process, PPMD is pleased to offer our enthusiastic endorsement of the legislation.

Over the past several months, PPMD has fought to include several key provisions included in the Senate version of the Food and Drug Administration Safety and Innovation Act, commonly referred to as the Prescription Drug User Fee Act or PDUFA. A number of similar provisions are also included in a House bill expected to be voted on by that chamber next week.

The provisions included in the Senate user fee bill will help expand the patient voice when key decisions are being made, an issue of grave importance to our community and to the larger rare disease community. The provisions will also provide the FDA with additional tools to more quickly review potential therapies for life-threatening conditions, including Duchenne.

PPMD has also supported expanded external expert engagement on key issues such as benefit/risk and trial design, and has urged the FDA to accelerate the timing of various rare disease-focused activities.

As Congress works to finalize the user fee legislation, PPMD calls upon the U.S. House of Representatives to amend their version of the user fee bill to mirror the patient representative provisions contained in the Senate legislation.

The legislative provisions that strengthen the patient voice throughout the FDA review process parallel the FDA Policy position statement adopted by the PPMD Board of Directors in February, and align with the Congressional request made by the PPMD community during the 2012 Advocacy Conference in Washington, DC.

Connect with us!

Thu, 17 May 2012 16:38:10 -0400

The clock is ticking and the Annual Connect Conference in Ft. Lauderdale, FL, June 28 - July 1, 2012 will be here before you know. Register today to participate in the most comprehensive and important annual meeting in the Duchenne community, and take advantage of our Early Bird Special, now through May 21!

Scientists Discover Clues to Muscle Stem Cell Functions

Thu, 17 May 2012 16:37:43 -0400

A study conducted by Children’s Hospital & Research Center Oakland scientists identifies how skeletal muscle stem cells respond to muscle injury and may be stimulated to improve muscle repair in Duchenne. The study, led by Julie D. Saba, MD, PhD, senior scientist at Children’s Hospital Oakland Research Institute (CHORI), shows that a lipid signaling molecule called sphingosine-1-phosphate or “S1P” can trigger an inflammatory response that stimulates the muscle stem cells to proliferate and assist in muscle repair.

Researchers develop new muscular dystrophy treatment approach using human stem cells

Sat, 05 May 2012 16:33:06 -0400

Researchers from the University of Minnesota's Lillehei Heart Institute have effectively treated muscular dystrophy in mice using human stem cells derived from a new process that – for the first time – makes the production of human muscle cells from stem cells efficient and effective.

The research, published today in Cell Stem Cell, outlines the strategy for the development of a rapidly dividing population of skeletal myogenic progenitor cells (muscle-forming cells) derived from induced pluripotent (iPS) cells. iPS cells have all of the potential of embryonic stem (ES) cells, but are derived by reprogramming skin cells. They can be patient-specific, which renders them unlikely to be rejected, and do not involve the destruction of embryos.

This is the first time that human stem cells have been shown to be effective in the treatment of muscular dystrophy.

According to U of M researchers – who were also the first to use ES cells from mice to treat muscular dystrophy – there has been a significant lag in translating studies using mouse stem cells into therapeutically relevant studies involving human stem cells. This lag has dramatically limited the development of cell therapies or clinical trials for human patients.

The latest research from the U of M provides the proof-of-principle for treating muscular dystrophy with human iPS cells, setting the stage for future human clinical trials.

"One of the biggest barriers to the development of cell-based therapies for neuromuscular disorders like muscular dystrophy has been obtaining sufficient muscle progenitor cells to produce a therapeutically effective response," said principal investigator Rita Perlingeiro, Ph.D., associate professor of medicine in the Medical School's Division of Cardiology. "Up until now, deriving engraftable skeletal muscle stem cells from human pluripotent stem cells hasn't been possible. Our results demonstrate that it is indeed possible and sets the stage for the development of a clinically meaningful treatment approach."

Upon transplantation into mice suffering from muscular dystrophy, human skeletal myogenic progenitor cells provided both extensive and long-term muscle regeneration which resulted in improved muscle function.

To achieve their results, U of M researchers genetically modified two well-characterized human iPS cell lines and an existing human ES cell line with the PAX7 gene. This allowed them to regulate levels of the Pax7 protein, which is essential for the regeneration of skeletal muscle tissue after damage. The researchers found this regulation could prompt naïve ES and iPS cells to differentiate into muscle-forming cells.

Up until this point, researchers had struggled to make muscle efficiently from ES and iPS cells. PAX7 – induced at exactly the right time – helped determine the fate of human ES and iPS cells, pushing them into becoming human muscle progenitor cells.

Once Dr. Perlingeiro's team was able to pinpoint the optimal timing of differentiation, the cells were well suited to the regrowth needed to treat conditions such as muscular dystrophy. In fact, Pax7-induced muscle progenitors were far more effective than human myoblasts at improving muscle function. Myoblasts, which are cell cultures derived from adult muscle biopsies, had previously been tested in clinical trials for muscular dystrophy, however the myoblasts did not persist after transplantation.

"Seeing long-term maintenance of these cells without major adverse side effects is exciting," said Perlingeiro. "Our research proves that these differentiated stem cells have real staying power in the fight against muscular dystrophy."

According to John Wagner, M.D., scientific director of clinical research at the University's Stem Cell Institute and renowned blood and marrow transplant expert, "This research is a phenomenal breakthrough. Dr. Perlingeiro and her collaborators have overcome one of the most significant obstacles to moving stem cell therapies into the treatment of children with devastating and life threatening muscular dystrophies."

The U of M researchers say alternative methods of Pax7 induction will need to be investigated before this study can be turned into a human clinical trial. Their method of delivering the Pax7 protein involved genetic modification of cells with viruses and because viruses sometimes cause mutations, they add risk to a clinical trial. But the U of M researchers are committed to developing a safe and effective clinical protocol, and are actively testing alternate methods of delivering Pax7.

Source: University of Minnesota Academic Health Center

PPMD holds landmark meeting with FDA leaders

Sat, 05 May 2012 16:32:24 -0400

PPMD convened a high-impact meeting with leaders of the U.S. Food and Drug Administration (FDA) drug review center to seek ways to accelerate the review process and to ensure the patient voice is included when key decisions are being made. The session represented a landmark meeting between high-level FDA leaders, and included the leader of the agency’s Center for Drug Evaluation and Research as well as the head of its neurology products division. Read the press release to learn more about next steps!

Results from DuchenneConnect study - Webinar follow up

Sat, 05 May 2012 16:32:05 -0400

Many of you asked questions during last week's webinar that we were unfortunately unable to get to within the hour. We have done our best to answer all questions submitted. Click the link below for the list of Q&A's, and let us know if you have any additional follow up questions!

Kitchen Table Conversations: Mothers & Daughters

Sat, 05 May 2012 16:31:46 -0400

In honor of Mother’s Day, the latest HerSelf First podcast features special guests Kris Hersom from Florida and Christine Piacentino from Rochester, NY discussing the complexities of the mother-daughter relationship, including what their daughters are teaching them about taking risks, living fearlessly, and staying connected to their sense of self.

Webinar: Results from DuchenneConnect Study

Sat, 05 May 2012 16:31:25 -0400

In our latest webinar, Dr. Stanley Nelson, Professor of Human Genetics at the David Geffen School of Medicine at the University of California, Los Angeles discusses his study of the DuchenneConnect data. His research team investigated several associations, including associations between corticosteroid use, supplement use, and ambulation, and they had some very interesting results to share.

Upcoming Webinar: Results from DuchenneConnect Study

Thu, 19 Apr 2012 23:45:34 -0400

Results from DuchenneConnect Study

DuchenneConnect and Parent Project Muscular Dystrophy are proud to present the next in our ongoing Direct Access Webinar Series on Wednesday, April 25 at 1pm eastern.

Topic: Results from DuchenneConnect Study
When: Wednesday, April 25 at 1pm eastern

Have you ever wondered if anyone is examining all the data entered into DuchenneConnect? Would you like to hear the results from a study focusing on the registry data? If so, you must listen to the webinar on April 25 at 1pm eastern. Dr. Stanley Nelson, Professor of Human Genetics at the David Geffen School of Medicine at the University of California, Los Angeles, will be discussing his study of the DuchenneConnect data. His research focused on analyzing the registry data from the start of the registry in 2007 through June, 2011. His research team investigated several associations, including associations between corticosteroid use, supplement use, and ambulation, and they have some very interesting results to share.

To Participate

Visit ReadyTalk.com and use participant code 9449985. (Be sure to test your computer beforehand)
Audio Dial-In Information:
- U.S. & Canada: Dial 866.740.1260 and use the Access Code 9449985
- Outside the U.S. and Canada: Lookup your number

If you are unable to attend this webinar, a link will be provided and posted on our website afterwards that will allow you to download the entire presentation.

DuchenneConnect's Direct Access Webinar Series
DuchenneConnect's Direct Access Webinar Series allows you direct access to key figures in the fight to end Duchenne. Whether it's a researcher offering updates on a developing therapy, or industry providing clinical trial information, this series will be your resource to find out what is going on in the community from the people making it happen. Please continue to visitDuchenneConnect.org to learn about upcoming webinars.

Pat's Blog: The 2012 West Coast Connect Meeting

Thu, 19 Apr 2012 23:44:51 -0400

How many times have you explained something that happened, but in the retelling, the moment lost its punch?

I’m a fan of technology. Really. I love it that we are able to participate in meetings and conferences in real time, from anywhere in the world. It encourages, incentivizes, stimulates conversation on community and social networking sites. In fact, many of you streamed during our West Coast Connect Meeting on Saturday. But while all of that is fantastic, there is something significant about being there. Something happens when the community gathers. There is an exchange that occurs, science and medicine aside…the connecting part of the West Coast Connect Meeting.

You had to be present during the reception when a new mom walked tentatively into the room. It was pretty clear she was new, the diagnosis raw. She had that look in her eye, tears welling in the corners, the weight on her shoulders obvious. We have all been there. Within minutes, people gathered around her, introduced themselves, asked questions, listened and then gently and tenderly brought her into the room, introducing her to researchers, clinicians, and other families. Her shoulders relaxed and after a few minutes, there was a smile.

We have all said time and time again, that we wish we had never heard the word Duchenne. But there is a lining… bronze, silver, gold… call it what you will. The Duchenne community is a family and when members of the family gather, there is a synergy, a spirit of kind-heartedness, helpfulness, empathy, hope. There is something to be said about connecting, not only with the families, but with researchers, clinicians and industry partners. There is something transferred in the conversation, that is not captured on-line – the intense desire to change the predicted outcome, clarification on timelines, what we can do now, optimal medical care across the spectrum, trials in progress or in development…and hope.

We will be posting presentations from our West Coast Connect Meeting in the coming week. Thank you to everyone who attended, presented, and watched us online. We hope everyone who can will join us at the Annual Connect Conference in Fort Lauderdale on June 28 – July 1 for more great presentations, critical information, and connecting.

Pat Furlong, Founding President, CEO
Read more PPMD Staff Blogs

Watch Live: 2012 West Coast Connect Meeting

Fri, 13 Apr 2012 15:18:15 -0400

Not able to join us at the 2012 West Coast Connect Meeting in San Diego, CA this weekend? Tune in from home to listen to this amazing lineup of presenters online! PPMD will be live streaming sessions on Saturday, April 14 from 8:15 am to 6:00 pm Pacific Time.

Pat's Blog: Getting It All Done (Co-blog)

Wed, 11 Apr 2012 12:35:58 -0400

Everyone is in a race against the clock these days. Nowhere is that more the case though, than in this community. Dealing with Duchenne, on top of everything else life throws at you, can leave you feeling overwhelmed, inadequate, and exhausted. In their monthly co-blog, PPMD President Pat Furlong and Colorado FACES coordinator, Ivy Scherbarth discuss the ways we cope with this ticking clock while keeping our families happy, our son’s healthy, and our sanity in check. Read this month’s co-blog and share your thoughts.

The Duchenne Box

by Pat Fu rlong

The Duchenne Box. The invisible pieces of our lives. The place where worries live, where the map of our life is designed, modified, changed, scaled up or down, the secrets hidden from others because they are impossible to explain, impossible for others to fully comprehend – the definition of Duchenne and all the strings that come along with it.

We all have such a box. It lives somewhere in the depths of our soul, the place we go to every day, every moment, the place we live once the word Duchenne enters our house.

There are days when the Duchenne box is impossible to conceal: an arbitrary visit to school, the children all running and your son behind (by what feels like miles), the clinic visit where changes are discussed and your knees shake uncontrollably, the kind neighbor with 'how are you?' and the expected response 'I'm fine' when you aren't.

Life feels heavy carrying around the burden of Duchenne, trying to manage the ordinary things, regular things, the things of life that have to happen in order to get through the day: breakfast, lunch, dinner, snacks, groceries, laundry, shopping, homework, errands and all that's attached to those activities, caring for, caring about, taking time, playing, smiling, drying tears, tenderness, making peace.

And in fulfilling all of the needs and wants of life, trying to find a safe place to tuck away that Duchenne box now and again, that place in your heart and mind, where you are able to let it rest, hide it, if only for a few seconds or minutes. Where you can see around or over the box and see the "sun," yourson that brightens your day – when he giggles for no reason at all, finds joy in a puddle left after a rainstorm, and loves with his whole heart.

Pat Furlong is the Founder and President of Parent Project Muscular Dystrophy. Follow Pat at her blog.

Getting It All Done

by Ivy Scherbarth

I know that it is not just me:

How is it that I cannot find time to take care of the basic needs of my family like grocery shopping, laundry, washing the dishes, and cleaning the house? How is it possible that I don't have time to do a five minute, once a week job like watering the plants? How is it possible to be this busy and yet still be constantly behindhand on everything I have to do?

In the old days, four years ago, before I knew the word Duchenne, I used to feel like I had plenty of time. I used to really believe in the virtues of taking a long view of things. I used to say, "Don't worry about this small thing that has happened to you. You could live to be 100 and you won't even remember this little disappointment." I used to expect to have grandchildren who would inherit the benefits of the hard work I do today. I was satisfied to be planting the seeds of great trees for them.

Time is not a thing I think of as being abundant anymore. I see our time as being sharply limited, horribly pinched by Duchenne. Nowadays, looking very far into the future means next month. I don't really expect to have any grandchildren. I don't want to think about living to be 100 because I don't want to think about how very many of those years will be after. You know,after, as in, you know.… I don't want to face a single minute of life on earth without my son being here to share in it! I am afraid to think about my kids growing up because nowadays I just don't have the old constant and unshakeable faith in that possible reality-- the reality where my son grows up and gets married and has kids of his own. A taking-the-future-for-granted life is over for me. I can't put a brave face on the deepest chambers of my heart so easily. And I can't just forget about all that angst and fear either. All I can do is kind of set it aside, in a special mental box labeled "Duchenne" and try to walk away from it for a while.

And that takes work. It takes time and energy and effort. You just can't see it happening from the outside. Moving on from the trauma of diagnosis is the kind of work that wears me out even though it is almost impossible to articulate why. Maybe trying to explain it is part of the reason it is so exhausting. It can be very hard to talk about the burden of the invisible, the deeply personal, and the cosmological. After the catastrophe of a Duchenne diagnosis, you have to reinvent the nature of the universe and the meaning of life for your new self. It can be very difficult to explain to an outsider why you're still having such a hard time pulling yourself together after years of working on it every day.

We are survivors of a completely invisible natural disaster. The moment of diagnosis is like the touch down of a tornado, destroying everything that sits directly in its path. Our dreams, our goals, our plans, our very selves are gone. But somehow it hasn't actually killed us, and so we have to find ways to rebuild. But rebuilding isn't quite it because we actually have to build anew. We are starting all over again from scratch. Like immigrants who have landed on a foreign shore, we have to learn a new language and customs, learn a new history, learn to advocate for ourselves, learn to accept ourselves as permanently separate or assimilate. Oh, and, I believe that I mentioned this important factor already? Our "immigration" process is completely secret because it all happens inside of our own heads. Our parents, childhood friends, neighbors, etc. have no idea that this has even happened to us unless it has also somehow happened to them. I cannot overstate the vast significance of the fact that no one can see what is happening inside of us. Somehow, having it be invisible makes the people around us, and even our own selves, want to dismiss it as insignificant. It's all in our heads, to be sure, but that doesn't mean it isn't really happening or somehow isn't very important.

That's an awful lot to think about while the business of life continues on around you, not only without pause, but in a horribly speeded up kind of way. Suddenly, we have a lot more incomprehensible draws on our precious time and energy while we simultaneously take on a tremendous amount of new practical work. We still have young children when we get the diagnosis. They didn't change at all. They still need us to reassure them and love them and tuck them in at night and make their lunches and remind them to put on a coat, for crying out loud. It makes me feel that not only am I Late(!) all the time but I am on the strictest and most horrible of literal deadlines. I have so much of the world to show to my son in so very, very little time! How can I give him the very best life when we all expect that life to be so short? And if you're like me, and feel compelled to finish your work before you play, the crisis of getting the groceries in becomes a reason to panic in itself. If I can't play with my son until I do the shopping and I can't shop until I write the list and I can't write the list until I have the mental space and I can't clear out the mental space until I have a solid cosmology and philosophical/spiritual basis for human existence in the face of Duchenne…!?!!

I feel like I am not only panicking, but I am also constantly distracted. Do people whose faith in God/life/reality remains steady in the face of Duchenne manage to get their houseplants watered before they are fatally desiccated? Are there people whose faith in God/life/reality remains steady in the face of Duchenne?

And what about those days when I just naturally wake up in the morning and I've somehow managed to get enough sleep and the sun is shining and I have nothing scheduled for the day and there are fresh strawberries waiting for my breakfast? Because those days happen too, just not as often as they used to. Those are days that take another kind of mental discipline altogether. Those are the days when our "Duchenne" box has to be shoved into a deeper, dustier corner in the attic of our minds. Those are days when we have to push ourselves to remember that our kids are still kids and they need us. Those are days when we have to make play a priority or we are robbing our children of what childhood is all about. Those are the days when we throw on some dirty clothes, pack the strawberries into a basket, squeeze our growing boy into the bike trailer and ride down to the river and sit under the new-leafed willows and get sand between our toes and in our sandwiches, and appear for a few hours in public to be relaxed, unhurried, and happy. If we're really lucky, we may actually even feel relaxed, unhurried, and happy for a while. Those are the days that we can give to our children as a gift, right now, wrapped in the ephemeral beauty and luxury of having plenty of time-- time to be, time to play, time to dream and grow, time to really live.

But then we have to come home again and make supper, and feed the cat, and wash the dishes, and bathe the kids, and throw a load of just underwear and socks into the washing machine (because we still haven't gotten the laundry done properly), and find the school lunch boxes, and look at the calendar, and write the grocery list, and be ready for the week to come, and collapse into bed at 10 or 11pm and hope against hope that we all wake up on Monday morning healthy and well rested enough to keep on keeping on the daily grind.

Looking at the calendar was in that list. What am I doing with my time besides worrying about the inchoate and ultimately unknowable? When I'm down at the river ignoring it all, just what am I taking a break from anyway? My calendar does not look like a cheerful Mother Goose rhyme, with a single task for each day (Monday wash, Tuesday iron, Wednesday mend, etc.) My calendar is full of things like doctor's appointments, PT, OT, swimming therapy, massage (for my Duchenne boy only-- never for me!), horseback riding therapy, marriage counselor, school psychologist. There's also all the "normal" stuff we do like work, school, music lessons, dance class, volunteer. And then there are those things that we just can't say no to doing just this once like look after my sister's pets for a few weeks while she's out of town, go to that informational evening about raising kids with disabilities, participate in that once-a-month friendly meet up group, spend a few minutes on a beloved hobby, attend that fundraiser for our local charity serving people with disabilities (they're serving us, after all), welcome a house guest for the weekend.

And then on top of those things, there are a few other projects we do relating to Duchenne. Do these sound familiar? Buy gear (like a wheelchair) and have it fitted for your son. Buy a van. Convert the van for accessibility. Design and build an accessible house or remodel an existing home. Move to the new, accessible house and/or live with construction guys in your remodel for 6 - 12 months. (Or, gasp, do the remodel, piecemeal, yourself!) Travel a couple of hours each way to the Neuromuscular Clinic 2 - 4 times a year. Participate in a clinical trial. Go to the PPMD Annual Conference. Organize and/or participate in at least one Run for Our Sons/Coach to Cure/MDA walkathon/Fill the Boot Campaign. Go to the PPMD Advocacy Conference. Lobby Congress. Participate in other fundraising events like wine tastings, golf tournaments, silent auctions. Go to FACES events. Nurse at least one child through major surgery and recovery, often more than one child and more than one surgery. Set up and/or update an IEP. Agitate for at least one public place you have to go to a lot to add accessibility features. Go on a Make-a-Wish trip. Make your own Make-a-Wish trip and go on that one too…

I'm not even going to write about our daily caregiving duties. Let's just discount for a minute all the time we spend with helping our sons get up, get dressed, get toileted, get clean, get stretched, get medicated, get fed. Let's not factor in how much time we spend organizing outside-of-the-family caregivers. Let's not even go into how long it takes to deal with irresponsible caregivers or gear that breaks down. And let's also put aside how much time we spend on researching DBMD issues or trying to find support on Facebook. And for pity's sake let's not talk about how much time we spend driving around town or who is looking after grandma.

So, how is it possible to be this busy and yet still be constantly behindhand on everything I have to do? Oh, wait. Maybe all that stuff we do because of Duchenne really is an unmanageable amount and I'm not just "mooning about" trying to figure out the meaning of life all the time. Maybe I'm in a panic because there really is too much going on.

Maybe this is the also partly the result of nothing feeling optional anymore. We used to talk about the differences between needs and wants; we could prioritize our lives to meet our needs and occasionally accommodate some of our wants. But with our Duchenne colored glasses on, we see all of the things we do as being necessary and essential, don't we? We are now in the untenable position of having to prioritize and make choices between needs and needs. Of course when everything is a need and our time and energies are limited, needs will slip through the cracks and go unmet. We are living our whole lives in crisis mode.

Different disability communities react to their situations in different ways. It is interesting to me to see that the DBMD trend is to grab life by the horns, hold on tight, and ride this monster to as many fun, exciting, life-affirming, and service oriented places we can make it go. This is a choice we are making as a community, this lifestyle of working and playing as hard as we can. I admire this choice in general but we could make other choices, and of course, some of us do. Maybe it is a matter of tweaking the schedule so that we can satisfy our need to make sense of it all, breathe, and then go get those groceries, not in a panic, but in a calm and efficient manner. Maybe, from time to time, we can make a quiet moment in which to contemplate. Or maybe sometimes it just all comes together in a great big mishmash, and we have one of those "aha" moments that give deeper meaning and a sense of belonging to our lives even in the midst of everything else that is going on. Maybe there's a reason why some grocery stores are open 24 hours a day and cactus makes such an attractive houseplant.

Ivy Scherbarth is a Colorado/Wyoming FACES Coordinator for PPMD. Follow Ivy at her blog, My Son, My Rain: A personal, biased account of one family living with Duchenne Muscular Dystrophy.

For Caregivers: The Power of Female Friendship

Wed, 11 Apr 2012 12:35:18 -0400

In the latest HerSelf First podcast, PPMD Northern California FACES coordinators, Rebecca Saulsbury and Christina Adamson discuss the importance of cultivating lasting, strong female friendships, and how having a child with a chronic illness alters the terrain of female social relationships.

April end Duchenne eNews

Wed, 11 Apr 2012 12:34:57 -0400

We are a community of voices. Voices that share stories. Voices that want to scream, and sometimes may. Voices that want to soothe, but sometimes can’t. And as overwhelming as all of this can be, we think you’ll see from this month’s newsletter…We are all making it happen.

PPMD Blog: AVI Summary Announcement

Mon, 02 Apr 2012 17:08:16 -0400

This morning, AVI BioPharma released information discussing their findings thus far in their Phase IIb study of Eteplirsen.

About Eteplirsen
Eteplirsen uses AVI’s phosphorodiamidate morpholino oligomer (PMO)-based chemistry to skip exon 51 of the dystrophin gene. By skipping exon 51, eteplirsen may restore the gene’s ability to make a shorter, functional form of dystrophin.

The Study
The Eteplirsen Phase IIb Study is being conducted at Nationwide Children's Hospital in Columbus, Ohio. Twelve boys between 7 and 13 years of age eligible for treatment with an exon-51 skipping drug received either IV infusions of placebo (n=4), 30 mg/kg of eteplirsen (n=4), or 50 mg/kg ofeteplirsen once weekly for 24 weeks (n=4). Muscle biopsies for evaluation of dystrophin were obtained at baseline for all subjects, after 12 weeks for patients in the 50 mg/kg cohort and after 24 weeks for patients in the 30 mg/kg cohort. Following the placebo trial, all patients were placed into the open label study.

In the open label study, two placebo patients were randomized to the 30 mg/kg cohort (now n=6) and two placebo patients were randomized to the 50 mg/kg cohort. The open label trial extension trial is ongoing. An extension has just been added to the study, which includes muscle biopsies at 24 weeks and 40 weeks in both the 30 mg and 50 mg cohorts.

Results
Results have demonstrated the following:

The group receiving Eteplirsen 30 mg/kg/week over 24 weeks resulted in a 22.5% increase in dystrophin on muscle biopsy, exceeding the company’s expectations. There was no increase in dystrophin in the placebo group.
The group receiving Eteplirsen 50mg/kg/week did not show an increase in dystrophin at 12 weeks, despite the higher dose.
The dystrophin produced appears to be new, novel dystrophin producing muscle fibers of normal length and consistency. The dystrophin appears to be diffusely distributed throughout the muscle biopsy.
There was no change in the clinical outcomes (6 minute walk test, Gower’s maneuver, 10 meter run) in the treatment group at 12 or 24 weeks.
Doses were well tolerated and there were no serious side effects to the drug at either doses.

Implications
These findings show that:

Shorter duration of treatment with eteplirsen (12 week) did not increase novel dystrophin production
Longer duration of dosing (at least longer than 12 weeks) is required before meaningful levels of dystrophin are produced
Although the amount of dystrophin was increased, the extension study will demonstrate whether or not longer treatment improves clinical outcomes (6 minute walk test, Gower’s maneuver, 10 meter run)
The extension study and additional biopsies will also demonstrate whether the amount of dystrophin in the muscle reaches a steady state (for example, does not go beyond 22.5% increase) or if it continues to accumulate and increase

Summary
AVI is to be commended for their dedication to Duchenne research and to be congratulated on their current findings. We are pleased to be partners in their continued research. Eteplirsen is the first DMD specific drug to demonstrate production of new, novel dystrophin consistently throughout the muscle. This extremely important finding supports the need for a pivotal trial. AVI is in the process of producing a brief for the FDA, collating the remainder of their data and presenting the need for next steps. A comprehensive summary of their findings will also be presented at the annual American Association of Neurology meeting in New Orleans, April 25, 2010, during the Emerging Science.

AVI BioPharma Announces Eteplirsen Meets Primary Endpoint, Demonstrating a Significant Increase in Dystrophin at 24 Weeks Compared to Placebo in Phase IIb Trial for the Treatment of Duchenne Muscular Dystrophy

Mon, 02 Apr 2012 10:11:32 -0400

BOTHELL, WA, Apr 02, 2012 (MARKETWIRE via COMTEX) --AVI BioPharma, Inc. (NASDAQ: AVII), a developer of RNA-based therapeutics, today announced that treatment with eteplirsen met the primary efficacy endpoint in a randomized, double-blind, placebo-controlled Phase IIb study in boys with Duchenne muscular dystrophy (DMD). Eteplirsen administered once weekly at 30mg/kg over 24 weeks resulted in a statistically significant (p ≤ 0.002) increase in novel dystrophin (22.5% dystrophin-positive fibers as a percentage of normal) compared to no increase in the placebo group.
"This study represents a major advance in the field of DMD research as the results indicate that eteplirsen is producing consistent levels of dystrophin, which is the essential protein that these patients need," said Jerry Mendell, M.D., Director of the Centers for Gene Therapy and Muscular Dystrophy at Nationwide Children's Hospital and principal investigator of the Phase IIb study. Dr. Mendell added, "We anticipate that these levels of dystrophin could lead to significant clinical benefit if maintained over a longer course of treatment."
In the study, a shorter duration of eteplirsen treatment, 12 weeks, did not show a significant increase in novel dystrophin (0.79% dystrophin-positive fibers as a percentage of normal; p-value NS), despite administration of the drug at a higher dose (50mg/kg once weekly). This finding suggests that a longer duration of dosing is required before meaningful levels of dystrophin are produced. There were no significant improvements in clinical outcomes in the treated groups compared to placebo. Performance on the 6-minute walk test and other outcome measures were generally stable across most of the patients, including the placebo patients, suggesting that a longer period of observation will be required to demonstrate clinical effects of eteplirsen versus a placebo control.
Eteplirsen was well tolerated at both dose levels through 24 weeks of treatment. There were no treatment-related adverse events, no serious adverse events, and no treatment discontinuations related to eteplirsen. Furthermore, no treatment related changes were detected on any safety laboratory parameters, including several biomarkers for renal function.
"We are very encouraged by the results of this first placebo-controlled study investigating exon-skipping technology in DMD," said Chris Garabedian, President and CEO of AVI BioPharma. "Eteplirsen represents the first drug candidate for DMD to demonstrate the production of novel dystrophin in a robust and consistent manner and these study results support advancing eteplirsen into a pivotal study."
Conference Call AVI BioPharma, Inc. will hold a conference call to discuss these results today at 8:00 a.m. EDT (5:00 a.m. PDT). The conference call may be accessed by dialing 800.561.2718 for domestic callers and 617.614.3525 for international callers. The passcode for the call is 99858553. Please specify to the operator that you would like to join the "AVI BioPharma Phase IIb Top-Line Data Results Call." The conference call will be webcast live under the events section of AVI's website at www.avibio.com and will be archived there following the call for 90 days. Please connect to AVI's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary. An audio replay will be available through April 9, 2012 by calling 888.286.8010 or 617.801.6888 and entering access code 16040637.
About Study 201 (Eteplirsen Phase IIb Study) Study 4658-US-201 was conducted at Nationwide Children's Hospital in Columbus, Ohio. Twelve boys meeting the inclusion criteria being between 7 and 13 years of age with appropriate deletions of the dystrophin gene that confirm eligibility for treatment with an exon-51 skipping drug received double-blind IV infusions of placebo (n=4), 30 mg/kg of eteplirsen (n=4), or 50 mg/kg of eteplirsen once weekly for 24 weeks (n=4). Muscle biopsies for evaluation of dystrophin were obtained at baseline for all subjects and after 12 weeks for patients in the 50 mg/kg cohort and after 24 weeks for patients in the 30 mg/kg cohort. Two placebo patients were randomized to the 30 mg/kg cohort and two placebo patients were randomized to the 50 mg/kg cohort. This study design allowed AVI to investigate the relationship of dose and duration of eteplirsen treatment on the production of dystrophin over the course of the 24 week study.
About Eteplirsen Eteplirsen is AVI's lead drug candidate that is systemically delivered for the treatment of a substantial subgroup of patients with DMD. Data from clinical studies of eteplirsen in DMD patients have demonstrated a broadly favorable safety and tolerability profile and restoration of dystrophin protein expression.
Eteplirsen uses AVI's novel phosphorodiamidate morpholino oligomer (PMO)-based chemistry and proprietary exon-skipping technology to skip exon 51 of the dystrophin gene. By skipping exon 51, eteplirsen may restore the gene's ability to make a shorter, but still functional, form of dystrophin from mRNA. Promoting the synthesis of a truncated dystrophin protein is intended to improve, stabilize or significantly slow the disease process and prolong and improve the quality of life for patients with DMD.
AVI is also developing other PMO-based exon-skipping drug candidates intended to treat additional patients with DMD.
About AVI BioPharma AVI BioPharma is focused on the discovery and development of novel RNA-based therapeutics for rare and infectious diseases, as well as other select disease targets. Applying pioneering technologies developed and optimized by AVI, the Company is able to target a broad range of diseases and disorders through distinct RNA-based mechanisms of action. Unlike other RNA-based approaches, AVI's technologies can be used to directly target both messenger RNA (mRNA) and precursor messenger RNA (pre-mRNA) to either down-regulate (inhibit) or up-regulate (promote) the expression of targeted genes or proteins. By leveraging its highly differentiated RNA-based technology platform, AVI has built a pipeline of potentially transformative therapeutic agents, including eteplirsen, which is in clinical development for the treatment of Duchenne muscular dystrophy, and multiple drug candidates that are in clinical development for the treatment of infectious diseases. For more information, visit www.avibio.com.
Forward-Looking Statements and Information In order to provide AVI's investors with an understanding of its current results and future prospects, this press release contains statements that are forward-looking. Any statements contained in this press release that are not statements of historical fact may be deemed to be forward-looking statements. Words such as "believes," "anticipates," "plans," "expects," "will," "intends," "potential," "possible" and similar expressions are intended to identify forward-looking statements. These forward-looking statements include statements about the development of eteplirsen and its efficacy, potency and utility in the treatment of DMD and the potential for the creation of novel dystrophin to lead to significant clinical benefit over a longer course of treatment.
These forward-looking statements involve risks and uncertainties, many of which are beyond AVI's control. Known risk factors include, among others: clinical trials may not demonstrate the safety and efficacy of eteplirsen and/or AVI's antisense-based technology platform; treatment of patients with DMD using eteplirsen over a longer duration may not lead to significant clinical benefit; and any of AVI's drug candidates, including eteplirsen, may fail in development, may not receive required regulatory approvals, or be delayed to a point where they do not become commercially viable.
Any of the foregoing risks could materially and adversely affect AVI's business, results of operations and the trading price of AVI's common stock. For a detailed description of risks and uncertainties AVI faces, you are encouraged to review the official corporate documents filed with the Securities and Exchange Commission. AVI does not undertake any obligation to publicly update its forward-looking statements based on events or circumstances after the date hereof.
AVI Investor and Media Contact:
Erin Cox
425.354.5140
Email Contact

AVI Media Contact:
David Schull
858.717.2310 or 212.845.4271
Email Contact

SOURCE: AVI BioPharma, Inc.
http://www2.marketwire.com/mw/emailprcntct?id=92FD1C6728CCA146
http://www2.marketwire.com/mw/emailprcntct?id=538ABDB1A62880F6

“Safe Harbor” Statement under the Private Securities Litigation Reform Act of 1995: The statements that are not historical facts contained in this release are forward–looking statements that involve risks and uncertainties, including, but not limited to, the results of research and development efforts, the results of preclinical and clinical testing, the effect of regulation by the FDA and other agencies, the impact of competitive products, product development, commercialization and technological difficulties, and other risks detailed in the company’s Securities and Exchange Commission filings.

Ask Your Representative to Co-Sponsor FAST Act

Mon, 02 Apr 2012 10:10:54 -0400

We are coming to you today to ask that you devote your attention and energy towards legislation that seeks to expedite the process FDA uses to review drug applications. PPMD has officially endorsed HR. 4132, the Faster Access to Specialized Treatments (FAST) Act, bipartisan legislation that was recently introduced in the House of Representatives.

How you can take action

The FAST Act is consistent with the FDA proposal the PPMD board adopted earlier this year. As such, we are requesting that you – our advocates – contact your members of Congress and urge them to co-sponsor the FAST Act.

We have prepared an email template for you to send to Representatives and a phone script for additional follow-up.

Background

Introduced by Reps. Stearns (R-FL) and Towns (D-NY), FAST puts into law an "accelerated approval" pathway for drugs that are in clinical trials with FDA and that are targeted to serious and life-threatening conditions, like Duchenne, that lack existing treatment options. Among other things, the bill would enable drug sponsors to request that their drug receive Fast Track designation by the FDA, and it would provide greater flexibility in designing clinical trials involving rare disease population. Given the challenges in finding a sizeable population with Duchenne to design an effective trial, this proposal holds promise for the development of drugs to treat the disease.

Portions of the FAST Act are included in the House's draft version of the Prescription Drug User Fee Act (PDUFA). PPMD will advocate that the FAST Act remain in the final user fee package that passes the Congress.

Thank you for all of your hard work and for joining us in this important & simple action.

Let’s keep up the outstanding advocacy!

Parent Project Muscular Dystrophy Endorses FAST Act Legislation to Expedite FDA Review of Life-Saving Therapies

Thu, 29 Mar 2012 15:35:15 -0400

Leading Duchenne-Specific Nonprofit Urges Congress to Enact as Part of User Fee Bill

HACKENSACK, N.J., March 29, 2012 /PRNewswire-USNewswire/ -- Parent Project Muscular Dystrophy (PPMD) – the leading advocacy organization fighting to end Duchenne muscular dystrophy – has endorsed legislation that would shorten the amount of time the Food and Drug Administration (FDA) takes to review candidate therapies for life-threatening conditions like Duchenne that lack other treatment options.

(Logo: http://photos.prnewswire.com/prnh/20100119/DC39975LOGO)

The bill, known as the Faster Access to Specialized Treatments or FAST Act, is bipartisan legislation sponsored by Rep. Cliff Stearns of Florida and Rep. Edolphus Towns of New York.

"For 20 years, FDA has had tools at its disposal to accelerate the agency's review of therapies targeted to treat life-threatening conditions that lack any other therapeutic options. Unfortunately, these tools have not yielded optimal advances despite the significant need that exists for patients and families living with Duchenne and other conditions," Pat Furlong, Founding President and CEO of PPMD, said.

"The FAST Act is commonsense legislation that would leverage the Fast Track and Accelerated Review options at FDA's disposal. It would allow sponsors of candidate drugs to petition FDA to designate their product as being eligible for Fast Track review. It would also allow for approval of therapies on the condition of surrogate endpoints or intermediate markers used to gauge the trajectory of a disease," Furlong added.

Surrogate endpoints are a particularly important issue to the Duchenne community given the course of the disease and the need to more quickly determine whether or not a therapy is having its intended effect.

The legislation also seeks to more appropriately balance the benefits of a therapy with the potential risks. It would revoke accelerated approval if a sponsor fails to adequately study and monitor the therapy in patients or if further studies fail to verify clinical benefit.

"With nearly 20 potential therapies in clinical testing, it is a very exciting time for the Duchenne community, but a time in which we must make sure the FDA is equipped with the tools and laws it needs to evaluate these therapies as quickly as possible to save our sons," Furlong said.

"I commend Congressmen Stearns and Towns for introducing this legislation, and I urge other members to cosponsor it today so it can become law this year," she added.

The FAST Act is consistent with the FDA policy position the PPMD Board of Directors adopted earlier this year, that seeks to address critical issues impacting the Duchenne and rare disease communities. PPMD is evaluating other FDA-related legislative proposals and engaging with Members of Congress on issues unaddressed to date, including the importance of making sure the voices of rare disease patients are heard when critical decisions, such as those about clinical trial design and appropriate levels of benefit and risk, are being made.

About Duchenne
Duchenne, the most common form of childhood muscular dystrophy, is a progressive and fatal muscle disorder affecting boys and young men that causes the loss of muscle function, wheelchair dependency and a decline in respiratory and cardiac function.

About Parent Project Muscular Dystrophy
Parent Project Muscular Dystrophy (PPMD) is a national not-for-profit organization founded in 1994 by parents of children with Duchenne and Becker muscular dystrophy. Our mission is to end Duchenne. We accelerate research, raise our voices inWashington, demand optimal care for all young men, and educate the global community. PPMD is headquartered inMiddletown, Ohio with offices in Fort Lee, New Jersey. For more information, visit www.ParentProjectMD.org.

SOURCE Parent Project Muscular Dystrophy

RELATED LINKS
http://www.parentprojectmd.org

Pat's Blog: Bikram Yoga meets the Grand Canyon

Thu, 29 Mar 2012 09:59:17 -0400

Bikram yoga. Michelle had just been home talking about her Bikram practice. We talked about it a lot over the holidays. Michelle had been practicing for nearly 5 years. I wondered if I could survive 90 minutes in 105 degree heat. I had a range of readily available excuses; the easiest one was that there was no Bikram in Cincinnati, Ohio. And my unspoken reason was that I hesitated because I was quite sure the class would be filled with shapely 30 something’s in bikinis and there I’d be, let’s just say, a mature woman and definitely not in a bikini.

Shortly after Michelle left for London, I decided I needed to learn about Bikram. Now, it is true, that if I decide to learn about something, I don’t stop until I feel convinced that I have learned what I needed to learn. My family and friends can attest to that fact as I often drive everyone to their wits end, with my endless searches and questions. I started with the ‘Bikram class locator’, plugging in 45042, my zip code just for fun, assuring myself that there was no Bikram nearby. I am convinced, sometimes the universe sends a message and there it was…. Cincinnati Bikram Yoga. Opened mid-December and just 35 minutes south.

The next day I had a meeting at Cincinnati Children’s Hospital. I gathered my courage and decided that I would head to Bikram just after. After all, I was in the neighborhood. How bad could it be? Just as the meeting was ending, I asked Kathi Kinnett about Bikram, assuring myself she would add to my long list of reasons against the idea.

And then THE BRIBE. Kathi offered to go with me, to help offset my worries about 30 year olds and bikinis. She agreed to partner the Bikram if I agreed to Conquer the Canyon. She agreed to call 911 if I fainted or worse. She agreed not to laugh if I was unable to do the first position. She agreed to secrecy, never to talk about my first Bikram. Without hesitation, I accepted the bribe, clearly used to bribes from raising my children.

For me, the first Bikram was a ‘near death’ experience. I attempted some of the poses, the heat taking its toll. For some of the poses, I sat, wishing the 90 minutes away. And strangely enough, after those first 90 minutes, I was hooked. There was something there, something that was helpful, something serene, something that I needed and something peaceful about those 90 minutes, staring in a mirror, attempting to stretch and balance all at the same time. The ‘universe’ was right. Silently and privately, I signed onto the Bikram and admittedly much less sure about fulfilling my part of the agreement, hiking the Canyon.

Why would I want to Conquer the Canyon? I had never been to the Grand Canyon, never thought about it really; my focus –Run for our Sons. But… then, the Canyon is scheduled for April, a month I both love and hate, always looking forward to signs of spring, but on the other side bittersweet. Jenny, Michelle, and Chris have April birthday 11, 14, and 27. Patrick died on April 29. The month is full of remembering: wonderful and tender moments, heartbreaking/gut wrenching moments, and each day recalling the day before or the day after moments, memories, and time. There are thoughts unspoken, unspeakable, about precious times filled with tears of sorrow, pride, and love. And as I thought about the Canyon and about April, I mentally committed to the bribe, to be on the team to Conquer the Canyon.

Chris and Patrick would never see the Grand Canyon from earth, but I decided I would take this journey and with each step, paint each color, each view of the amazing landscape, the grandeur of the Canyon on my heart, and send it to heaven via the universe with love, with remembering, with longing.

It is April after all…Spring, a new beginning, as well as a time for remembering, a time to celebrate, a time to participate with others – actually a perfect time for this journey.

And as you might imagine, part of the deal is that I am raising money for research. I realize we all have precious few dollars to spare and decisions around donations are done thoughtfully, carefully, and with purpose. I’m asking for your help. I am asking you to support this journey. And I, in return, promise to Conquer the Canyon for every boy and every family where Duchenne, the uninvited visitor, has entered.

I would be grateful, thankful, and thrilled if you would join our team. I can promise that every dollar you give will be leveraged to accelerate therapies and to change the predicted outcome for all of our sons. Because it is important, because it matters to me and I know to you. Duchenne is a complex multi-system condition and it will take all of us, together.

Give what you can and if you are able. Send me your thoughts, your karma, your prayers, your silent commitment. Let’s End Duchenne.

Prosensa’s Clinical Development Plan Update – March 2012

Mon, 26 Mar 2012 13:09:54 -0400

In parallel to the on-going development of the lead compound PRO051/GSK2402968, which is being developed by GSK with an active involvement of Prosensa, there are five more compounds for Duchenne in Prosensa’s pipeline. Below you can find an update about the current state of development of these compounds.

Prosensa is currently conducting a clinical study to investigate the effect of PRO044 in boys with Duchenne muscular dystrophy, who have a dystrophin gene mutation amenable to an exon 44 skip. This study is a phase I/IIa study that will assess the safety, tolerability, efficacy and pharmacokinetics of PRO044. The inclusion/exclusion criteria, as well as the endpoints and investigator locations are available on www.clinicaltrials.gov (search terms ‘Duchenne and Prosensa’ or ‘PRO044’).

Prosensa has four additional compounds in development that target exons 45, 53, 52 and 55 (PRO045, PRO053, PRO052 and PRO055). These programs currently are in the pre-clinical development phase. It is anticipated that the company will be able to progress PRO045 and PRO053 into the clinic in the second half of 2012. Discussions are on-going with the regulatory authorities to ensure optimum development. Each trial will be posted at the website www.clinicaltrials.gov as soon as the study design is finalized and all the required approvals of authorities and ethics committees are granted.

It is always difficult to predict timelines for drug development. Therefore, please keep in mind that expected start and end dates are based on predictions and could be delayed if unforeseen events occur.

Prosensa is very committed to developing safe and effective treatments and we will do our utmost to succeed herein. Our goal is to develop compounds for as many patients as feasible who may benefit from the exon skipping platform.

Pat's Blog: Steroids - A Certain Can of Worms (A Complicated State of Affairs)

Wed, 21 Mar 2012 16:29:14 -0400

Steroids. What regimen, what dose, for what individual? When to start? When to stop? A complicated question to be sure.

Steroids are a complicated story and have clearly changed the natural history of Duchenne. We know they work for some, for most in fact, but not all. We know they increase strength and prolong ambulation, and statistics back this up. Predicting ambulation is prolonged on average for 2+ years. But this is not the end of the story. Genetic modifiers have been identified that are thought to dramatically push out this timeline. Individuals with specific genetic modifiers continue walking into their mid- to late teens, often called outliers.

It is clear that steroids have changed the natural history and we cannot forget about the impact of night splints and aggressive stretching. We can mention supplements, though there is scant data which is largely anecdotal. And hopefully there has been a general change in attitude, less therapeutic nihilism today than 10 years back – a therapeutic dose of hope. Physicians are less likely, today, to say ‘no hope and no help’ and send us on our way.

The Right Regimen
Twenty-eight years of steroids, multiple publications, Cochrane Report, and significant unpublished data, and we still have no definitive answers about the RIGHT regimen and I’m guessing we never will. Some years back we surveyed families, inquiring about their son’s regimen and interestingly we learned about 20 or so regimens in our very informal survey.

They included:

10 days on and 10 days off
Daily Prednisone 0.35mg/kg
Daily Prednisone 0.75mg/kg
Daily Deflazacort 0.9 mg/kg
Alternate Day 0.75mg/kg
High Dose Weekend 0.75mg/kg X 14, divided into 2 doses
Low Dose Weekend 0.75mg/kg X 7, divided into 2 doses

And variations on the theme:

10 days on and 5 days off
10 days on and 2 days off
Daily with changing dosage
Random – modifications done along the way based on appetite (PM rather than AM dosing), behavior (every other day during the week, 2 consecutive days of the weekend)

There will never be the perfect regimen that is best for all of the boys. Is there such a thing as the average boy with Duchenne? With genetic diagnosis and hopefully soon, expanded knowledge about genetic modifiers, we may have a more informed ways to discuss steroids. At the end of the day, it is up to the family, the individual, and the clinical team to discuss what makes most sense. Keep in mind, medicine is personalized. And one day, we are all hopeful to have a replacement... something that improves strength with fewer side effects.

Spectrum of Responses
Over the last 20 years, I have met more than 1,000 boys with Duchenne, most of them on steroids. For me, they fall into specific subsets.

No response to steroids – this is the minority, but there are clearly non-responders.
Increase in strength accompanied by severe changes in behavior, which do not lessen over time.
Increase in strength but dramatic increase in weight (insulin resistance, glycemic diet currently recommended by some clinics)
Increase in strength accompanied by changes in behavior (easier to push their buttons)
Dramatic increase in strength, nearly a Becker like phenotype.

Of course, it is important to keep in mind, this is a spectrum, with the lines blurring on each end. But, if you speak with parents you might hear these common themes.

When to Start? What Dose?
And there is the ‘when to start steroids’ dilemma. There are some physicians who suggest that starting early (say 3 or 4 years old) minimizes behavior side effects. This may be true, but the side effects after 5-10 years old are pretty obvious and for some boys and their families, really hard to deal with.

Other physicians suggest starting steroids when the boys plateau and some, with signs of decline. The argument from the other side, is that the best medicine is preventative, initiating therapy to prevent decline.

Still others suggest that the boys start steroids when the parents are ready, having fully weighed risk and benefit.

And there is the dose issue. Some physicians initiate therapy with 0.75mg/kg (or 0.9mg/kg Deflazacort) and never adjust the dose as the individual changes in height and weight. Others initiate therapy and adjust (increase) the dose over time as height and weight changes and consider 30-35mg/steroid day as the maximum permissible dose.

Continued Discussion
Whatever the decision, the discussion continues – each visit, each year – evaluating benefit and risk and potentially modifying the plan.

While there are suggested regimens and regimens favored by certain clinics, sometimes the side effects dictate that a change is necessary. This is where clinical judgment comes into play. Families must discuss their concerns with their physician, weighing benefit and risk, altering regimens and timing of the dose (from AM to PM).

Steroids will hopefully be replaced in the near future with something better, more predictable, less toxic. But for today, there is no easy or simple solution as all boys need and deserve personalized medicine.

Steroids are complicated. And it is important to remember, you know your son best. Consult with physicians, experts, other families in the community, and then make the decision as a family.

Upcoming Webinar: AVI Trial Update

Mon, 19 Mar 2012 17:13:40 -0400

Parent Project Muscular Dystrophy presents an AVI webinar on Wednesday, March 21 at 1pm eastern. The webinar will cover a pre-data update on AVI BioPharma's Phase IIb study evaluating eteplirsen for the treatment of Duchenne patients with mutations amenable to exon-51 skipping, and will be lead by Chris Garabedian, the CEO of AVI BioPharma.

ImagingDMD MRI Study (DuchenneConnect Webinar Series)

Mon, 19 Mar 2012 17:13:18 -0400

Dr. Krista Vandenborne and Claudia Senesac, PT, PhD, PCS, both from the University of Florida, discuss the ImagingDMD Study. This study focuses on developing Magnetic Resonance Imaging (MRI) as a tool to monitor disease progression in Duchenne and to serve as an outcome measure for clinical trials.

Pat's Blog: Our View

Wed, 14 Mar 2012 16:56:35 -0400

So many times we view the world from the dark side, the part where we worry our sons (and daughters) may never see x or y, may never have this or that opportunity. I recall Kevin Smith standing up and telling us how he promised Zach there would be no limits on what he wanted to do or see, that if he wanted to see the top of a mountain, Kevin would put him on his back and show him the view. I think any of us would do that for our child or for our friend.

This video expresses loads of things, but one thing in particular, is that the view is still beautiful, even if you are carried.

I hope you’ll join me as we Conquer the Canyon to End Duchenne, April 20-23, 2012.

Volunteers needed to Dine Out for Duchenne!

Wed, 14 Mar 2012 13:33:25 -0400

Do you love to go out to eat? Do you want to help fundraise, but don't have the time? Then this is the event for you!! You can participate whenever you visit a new restaurant without doing extra work! It's fast and easy!!

Dine Out for Duchenne is a week-long, online event where people can purchase gift certificates donated by restaurants throughout the United States. Supporters can click on an image map of states to find the listings, by city, in any state – for their own dining, as a gift, for when they travel, etc. Each restaurant will have a listing (multiple listings if more than one location) that includes a description of the restaurant, a link to their website, and the amount of the certificate. Press releases will be sent out to national and local media, focusing on the restaurants in local areas. The week before the event will be a preview week where people can look at the available certificates and target their purchases.

Here’s how it will work:
PPMD volunteers will go to their favorite, local restaurants to seek gift certificates. [Note: Volunteers will be provided with a packet of information they can use when visiting the restaurants. One of our members has done this for a local fundraiser and tells us that restaurants are very willing to help out, making the volunteers’ jobs easy.]
Gift certificates will then be displayed and sold on our Dine Out for Duchenne website during the week of May 13-20, 2012.

We’re aiming for at least 15 certificates of $25 each from each of the 50 states…but of course, more is better! Our first goal, however, is to get at least two volunteers from each state committed to get gift certificates.

Will you help?
Email Judy Schneider at judygsch@comcast.net today to volunteer and help us make this fundraiser the incredible success we believe it can be! Let’s Dine Out for Duchenne. Together, we will end Duchenne.

Thanks and we look forward to working with you!

Rare Disease Leaders’ Forum 2012

Tue, 13 Mar 2012 15:17:43 -0400

Pat's Blog:

This is my first visit to San Francisco, the city by the bay, home of the Golden Gate Bridge and Tony Bennett’s song “I Left My Heart in San Francisco,” a song from my younger days and one that, even today, sometimes gets in my head and repeats and repeats.

Some time back I was invited to participate in the Rare Disease Leaders’ Forum, participating in a working group to discuss how the role and business model of patient groups is evolving, the funding models, de-risking specific programs or areas of drug development, building patient registries and natural history data and its relevance to Phase IV, post marketing surveillance, and what might be a recipe for success (and failure) in rare diseases. As the working groups for these discussions evolved, I was invited to chair a workshop on entering and collaborating with patient advocates, a discussion centered around piecing together an assembly line of information to make potential rare disease opportunities more tangible and to discuss lobbying for reimbursement and how we might ensure a sustainable model for price and access throughout the product lifecycle. These are complex issues but there are solutions and key reforms that need to take place to ensure access.

I’m looking forward to these discussions and will report back what I learn.

Webinar on the ImagingDMD MRI Study on March 14

Mon, 12 Mar 2012 10:08:47 -0400

Dr. Vandenborne will explain what “magnetic resonance imaging” is, what it may be able to tell you about your son, and how you can help develop this tool to aid in future therapy development trials.

The March End Duchenne eNews is here!

Mon, 12 Mar 2012 10:08:32 -0400

In our latest newsletter, we proudly present our 2012 educational series, the Connect Conference and West Coast Connect Meeting. We also fill you in on how you can experience a once-in-a-lifetime adventure, while helping end Duchenne at the same time. Plus, meet our Featured Voice, 30-year-old, Canadian author, Ricky Tsang.

Reminder: Register Today for 2012 West Coast Connect Meeting

Wed, 07 Mar 2012 17:01:17 -0500

By now we hope you have heard that Parent Project Muscular Dystrophy will be hosting our first West Coast Connect Meeting, April 13-15, 2012 in San Diego, CA at the San Diego Marriott Mission Valley. This will be a great opportunity to get the latest research updates on a variety of different therapies in the pipeline, as well as direct access to the people moving these projects along. We are very excited about the comprehensive agenda that we have put together, and the amazing assembly of speakers.

AVI BioPharma Announces Fourth Quarter and Full Year 2011 Financial Results and Recent Corporate Developments

Thu, 01 Mar 2012 17:02:56 -0500

"This past year at AVI was marked by significant advancements in our lead clinical program with our drug, eteplirsen, for the treatment of Duchenne muscular dystrophy and we are now poised to deliver results from these efforts in the coming months," said Chris Garabedian, president and CEO of AVI. "We believe 2012 will be a transformative year for AVI, as we learn the clinical effects of eteplirsen in what will be the first reported placebo-controlled study assessing the disease-modifying effects of exon-skipping technology."

Safe and Effective Medicines for Children

Thu, 01 Mar 2012 17:02:37 -0500

The IOM has published a review of the Best Pharmaceuticals for Children Act (BPCA) and the Pediatric Research Equity Act (PREA), policies that were designed to encourage more pediatric studies of drugs used for children.

Latest issue of BIO-NMD's Patient Newsletter

Thu, 01 Mar 2012 17:02:16 -0500

BIO-NMD is a research project searching for biomarkers in people with Duchenne and Becker. By measuring and monitoring these biomarkers, the effect of drugs or other therapies on disease progression can be evaluated. Check out BIO-NMD's latest Patient Newsletter, which provides a project update and a collection of news & events from related organizations

TAKE ACTION! 2012 Advocacy Conference Action Alert

Mon, 27 Feb 2012 16:49:02 -0500

We need your help in supporting PPMD's 2012 Advocacy Agenda. Whether or not you were able to join us in Washington, DC for our 2012 Advocacy Conference, now is the time to make your voice heard. As always, we aim to preserve critical funding for Duchenne research and education programs. You are just a few "clicks" away from sending your Senators and Representative an email message asking for their support.

Duchenne Advocates Take to the Hill

Mon, 27 Feb 2012 16:48:48 -0500

Nearly 80 parents, grandparents, and relatives of boys with the most common form of muscular dystrophy will be on Capitol Hill today and tomorrow urging Members of Congress to support critical research and patient care initiatives. Advocates from 23 states are participating in the 13th annual advocacy event sponsored by Parent Project Muscular Dystrophy (PPMD), the largest Duchenne muscular dystrophy advocacy organization in the nation.

AVI BioPharma Announces Fourth Quarter and Full Year 2011 Financial Results and Corporate Update Conference Call

Thu, 23 Feb 2012 17:19:01 -0500

AVI BioPharma, Inc., a developer of RNA-based therapeutics, will report fourth quarter and full year 2011 financial results after the NASDAQ Global Market closes on Thursday, March 1, 2012. Subsequently, at 5:00 p.m., Eastern Time (2:00 p.m., Pacific Time), Chris Garabedian, AVI's president and CEO, will host a conference call to discuss fourth quarter and full year 2011 financial results and to provide a corporate update.

PPMD Awards $500,000 to Tivorsan Pharmaceuticals

Wed, 22 Feb 2012 16:21:23 -0500

PPMD is proud to be able to award Dr. Fallon and Tivorsan this grant to continue their critical work with biglycan. This community came together during the holidays and made funding biglycan a priority, so that we could fulfill our pledge of $500,000. Thank you to everyone who not only sees a future without Duchenne but are making it happen.

PPMD Announces Board Approved FDA Policy

Wed, 22 Feb 2012 16:21:09 -0500

At this time, Congress is working on writing a critical FDA related bill called the Prescription Drug User Fee Act (PDUFA), and PPMD is working with other rare disease advocates on provisions to benefit our sons. Earlier this year, the PPMD Board of Directors adopted a policy position that, among other things, seeks to ensure the potential benefits of a therapy are weighted appropriately against possible risks.

Summit Outlines Clinical Trial Plans for its Duchenne Program

Tue, 14 Feb 2012 12:57:58 -0500

Summit today outlines its clinical trial plans for SMT C1100, a potential first-in-class disease modifying drug for the treatment of the fatal rare disease Duchenne Muscular Dystrophy. SMT C1100 is a small molecule that works by producing a naturally occurring protein called utrophin to substitute for the missing dystrophin. This is the only approach in development that continually makes new utrophin and has the potential to treat all Duchenne patients, regardless of their specific genetic mutation.

JumpStart Invests $250,000 in Milo Biotechnology

Tue, 14 Feb 2012 12:57:41 -0500

Milo Biotechnology will receive $250,000 from JumpStart Inc., a nonprofit investing intensive business assistance and some capital into early stage Northeast Ohio-based tech companies. Milo Biotechnology's lead product is an adeno-associated virus (AAV) delivered follistatin protein. The Phase I/II trial, funded by a grant from Parent Project Muscular Dystrophy, is enrolling patients with Becker muscular dystrophy and inclusion body myositis.

Trailer - A Life Worth Living: Pushing the Limits of Duchenne

Tue, 14 Feb 2012 11:51:46 -0500

Available on DVD in April 2012.

West Coast Families: Join PPMD in a variety of events near you

Tue, 14 Feb 2012 11:51:11 -0500

We are excited to announce a 2012 calendar full of events on the West Coast! From educational Connect Meetings, to Run For Our Sons events, to FACES support groups, we look forward to seeing you and your family at any or all of these great events!

The February End Duchenne eNews is here!

Tue, 14 Feb 2012 11:50:57 -0500

February is arguably one of the most important months of the year for this community. Each winter, families gather in our nation’s capital to have their voices heard by lawmakers in the hopes of increasing funding for Duchenne-specific research.

AVI BioPharma to Present Company Overview at the 14th Annual BIO CEO & Investor Conference

Thu, 02 Feb 2012 17:00:08 -0500

AVI BioPharma, a developer of RNA-based therapeutics, announced today that Chris Garabedian, AVI's president and CEO, will present a company overview at 9:30 a.m. EST on Tuesday, Feb. 14, at the 14th Annual BIO CEO & Investor Conference at the Waldorf Astoria in New York City. The presentation will be webcast live under the events section of AVI's website at www.avibio.com and will be archived there following the presentation for 90 days.

Despite Flat Budget, NIH’s TRND Program Tries to Spark Interest in Rare and Neglected Diseases

Thu, 02 Feb 2012 16:59:50 -0500

With 14 approved programs in total, TRND has progressed two into clinical development. For the past two years NIH has been trying to double its funds for developing orphan drugs. But the FY 2012 budget offered more of the same, as in the same $24 million of annual funding set aside for NIH’s Therapeutics for Rare and Neglected Diseases (TRND) program since its creation in 2009. The institute had sought $50 million for TRND this year and last.

Important Advocacy Webinar: PDUFA Reauthorization

Tue, 31 Jan 2012 11:52:06 -0500

As PPMD heads into another year advocating in Washington, we encourage all members of our community to learn more about drug development and the FDA.

GSK's Clinical Development Plan for Duchenne

Thu, 26 Jan 2012 12:44:01 -0500

GSK has released comprehensive details their four controlled clinical studies to evaluate the effect of the investigational medicine GSK2402968 (GSK’968), formerly known as PRO051, in boys with Duchenne, who have a dystrophin gene mutation amenable to an exon 51 skip.

Prosensa Raises €23 Million in New Equity Financing

Thu, 26 Jan 2012 12:43:44 -0500

Prosensa, the Dutch biopharmaceutical company focusing on RNA-modulating therapeutics for rare diseases with high unmet needs, announced today that it has raised €23 million in new equity financing. This new investment gives additional stability to the company and allows Prosensa to keep advancing the Duchenne programs as fast as possible.

PPMD Awards Stanley Froehner, PhD, $132,322 Grant

Wed, 18 Jan 2012 16:01:10 -0500

PPMD recently announced that it will award University of Washington’s Dr. Stanley Froehner a grant in the sum of $132,322 to continue his work with sildenafil (Viagra) and prednisone, as PDE5 inhibitors like sildenafil are brought to human clinical trials. According to Dr. Froehner’s research, studies of sildenafil, an FDA drug that amplifies the nNOS signaling pathway, demonstrate a marked improvement in heart and diaphragm function in the mdx mouse. In preparation for expanded clinical trials in Duchenne patients, his team will determine in mdx mice if sildenafil and prednisone have additive effects, or if prednisone can interfere with the positive effects of sildenafil. Since steroids are standard care in Duchenne, investigators want to understand how drugs will act when used in combination with steroids.

NORD's letter to Congressman Stearns

Mon, 16 Jan 2012 16:27:15 -0500

The National Organization for Rare Disorders (NORD) believes that there are regulatory and legislative alternatives to the recent "Unlocking Lifesaving Treatments for Rare Diseases Act" (ULTRA) proposal that can more quickly advance the development of new drugs for rare diseases.

The January eNewsletter is here!

Mon, 16 Jan 2012 16:26:59 -0500

With the New Year, we are excited to bring you a revamped newsletter that gives you the inside scoop on the latest happenings in Duchenne research, advocacy, care, and the community. We will also bring you a new monthly feature, My Voice, featuring someone special living with Duchenne.

Enzyme function may discover muscular dystrophy therapies

Mon, 16 Jan 2012 16:26:46 -0500

The function of the glycosylating enzyme involved in muscular dystrophy, brain development and infection by arenaviruses could reveal new therapies. Researchers at the University of Iowa have mapped the function of the enzyme LARGE and believe that the knowledge could help to screen potential muscular dystrophy therapies. The LARGE enzyme is known to add a critical sugar chain onto an important membrane protein called dystroglycan.