Parent Project Muscular Dystrophy

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.