Parent Project Muscular Dystrophy

Researchers discover chemical that may protect hearts of muscular dystrophy patients.

2010-03-18T19:59:01Z

Researchers discover chemical that may protect hearts of muscular dystrophy patients

By administering a chemical called a 'molecular band-aid,' U of M researchers were able to prevent heart injury in dystrophic canines

MINNEAPOLIS / ST. PAUL (March 15, 2010) Researchers at the University of Minnesota Medical School have discovered a chemical that may, over the long term, protect the hearts of Duchenne muscular dystrophy patients – a fatal and most common form of muscular dystrophy in children.

The chemical, which Medical School scientists have termed a "molecular band-aid," seeks out tiny cuts in diseased heart muscle. When injected into the bloodstream, the molecular band-aid finds these microscopic cuts and protects them from harmful substances so the heart muscle cells can survive and function normally. In order to be effective the chemical must be repeatedly injected, much in the same way a diabetic patient requires regular injections of insulin,

In the March 15 edition of the Journal of Clinical Investigation, Joseph Metzger, Ph.D., professor and chair of the Department of Integrative Biology and Physiology, DeWayne Townsend, D.V.M., Ph.D., assistant professor in the Department of Integrative Biology and Physiology, and colleagues showed the first ever effective long-term treatment for preventing cardiac injury and progressive heart chamber remodeling in a severely affected canine model of muscular dystrophy.

In the study, dystrophic dogs were given the molecular band-aid continuously for two months. The treatment completely blocked cardiac injury and heart disease remodeling compared to the control group of dystrophic canines receiving a placebo.

"The advance in this study is demonstrating that molecular band-aid therapy is a safe and effective approach in preventing heart damage in severely affected large animals with muscular dystrophy," Metzger said.

The hopeful next major step is to determine whether children with muscular dystrophy can be helped by applying the molecular band-aid, first over short periods, then if successful, over the long term with the ultimate goal of enhancing the health and quality of life of muscular dystrophy patients.

Muscular dystrophy causes the muscles in the body to progressively weaken. Duchenne is the most common and severe form of childhood muscular dystrophy. About one of 3,500 boys are born with the crippling disease. Symptoms usually begin in children who are 4-5 years-old, most are in a wheelchair by age 12, and many who have the disease pass away by their late teens to early 20s. The primary causes of death are respiratory failure and heart failure. Current treatments, largely limited to corticosteroids, are minimally effective and can cause serious side effects.

The potential for the molecular band-aid discovery is yet to be fully realized – and may be stretched even beyond those who are impacted by muscular dystrophy. Metzger and Townsend believe the molecular band-aid may be applicable in elderly patients who simply have weakened heart muscle. If that is the case, the molecular Band-Aid could be used as a therapy for millions.

"We speculate that certain types of heart damage that occur when we age or when the heart is failing may also someday benefit from molecular band-aid therapy," Townsend said. Link back to article

If your child took part in the ataluren trial, we want to hear from you. Click here to help us gather important data.

2010-03-16T20:46:18Z

The Voice of the Patient:

A Re-Examination of the ataluren Data

Again last week we spoke with a number of parents about their experiences with ataluren. They shared their thoughts about the trial and about what changes they noticed. In parallel, PTC’s analysis of the data continues. While the trial(s) produced a wealth of data that will inform all future trials, we are interested in plans, next steps, and WHEN. We are not finished with this conversation and are not giving up on ataluren.

For all of us, this is about buying time.

To that end, we want to be responsive as parents and responsible as partners in this research, to move ataluren (and all strategies) forward, if there is a chance for benefit for the boys. We must understand the nitty gritty of who may benefit, at what specific dose; and what parameters need to be measured in order to reach statistical significance

PPMD has been actively engaged in discussions about what can/should be done to be helpful and how we may be able to collect evidence that some of the boys may have benefited from ataluren.

First and foremost, we need the collective voice of the patients/families who have participated in the clinical trials.

We will:

1. Ask the patients/families to self-identify.
2. Ask the patients/families, health care providers and caregivers to provide subjective and objective data.
3. Compile this information and present it to PTC (and potentially with PTC to regulatory agencies), as this information will supplement the case for moving forward.

To that end, PPMD has organized a program to collect and collate this information. We have outlined a very short list of questions and ask that you connect with your son’s doctors, physical therapists, and teachers , asking them to provide letters or data that describe what changes they noted and when during the clinical trial period.

TAKE SURVEY NOW

All information can be sent to info@parentprojectmd.org.

There are many examples where the patient’s voice has contributed to the process of drug approval. The FDA has informed PPMD of several examples wherein the patient community has played a significant role in moving a drug forward when initial clinical trials failed to reach statistical significance. One such example is BiDil, a drug for congestive heart failure, which widens blood vessels by increasing levels of nitric oxide. A racially and culturally broad population was involved in early trials. The drug failed to reach statistical significance, though the African American's participating in the trial believed they received substantial benefit. The African American's participating in the study, collected subjective and objective data and presented it to the company. This information directly coincided with what the company found in the sub analysis and enabled them to convince regulatory agencies that the drug was effective in this subgroup of patients. The U.S. Food and Drug Administration approved BiDil in June 2005, becoming the first drug approved exclusively for one race, African Americans. Eight years ago this drug for congestive heart failure was rejected for use in the general public, but a study of 1,050 African-American heart failure patients showed that BiDil significantly reduced death and hospitalization.

As a community we are prepared to move forward on the recommendations of our experts. This current effort will have a single/unified voice for the community, collecting information/data in a systematic way, organizing and collating the information, and presenting it to PTC and potentially regulatory agencies. This is to ensure we can obtain the most complete and valid data in order to determine if ataluren is beneficial, and if so, to speed its delivery to those young men that need it. (READ MORE)

Registration is open for PPMD’s 2010 Annual Connect Conference in Denver, Colorado, June 24-27. Take advantage of our early bird special by registering today!

2010-03-16T15:20:19Z

Connecting passion, promise and people in the fight to end Duchenne.

Welcome to everything you need to know about the 2010 Annual Connect Conference in Denver, Colorado from June 24-27, 2010. We will be constantly updating this page so that you get the latest news about this year's fantastic conference, and figure out what our host city, Denver, has to offer you and your family.

It is a new decade and Parent Project Muscular Dystrophy is more determined than ever to provide you with the most up-to-date and accurate information regarding the diagnosis, treatment, and management of Duchenne muscular dystrophy. (READ MORE)

FDA Officials go to new length to encourage applications for Orphan-Drug Status.

2010-03-12T20:24:27Z

CLAREMONT, Calif.—Staff members at the Food and Drug Administration are doing something unusual. They are leaving Washington to help drug makers take a crucial step in developing drugs for rare diseases.

The staffers help administer the Orphan Drug Act, which provides incentives to create therapies for so-called orphan diseases—those that affect fewer than 200,000 Americans. There are about 7,000 such maladies, most of them serious, that have few or no drugs to treat them, from adenoid cystic carcinoma, a rare head and neck cancer, to Zollinger-Ellison syndrome, which is associated with a tumor that causes the production of high levels of stomach acid.

As a result, doctors may end up prescribing drugs developed for other diseases off-label, but not all insurers will cover this kind of use.

Getting an orphan-drug designation opens the door to incentives once the FDA approves a medicine for sale in the U.S., including seven years' marketing exclusivity and tax breaks. Last year, just 250 requests for orphan-drug designation were filed, and 160 received it.

"We're barely scratching the surface," says Timothy Coté, director of the FDA's Office of Orphan Products Development, the workshop's sponsor. He says there are roughly 350 orphan drugs approved, covering about 150 rare diseases. (READ MORE OF THE ARTICLE)

Check out PPMD’s March newsletter, including new marathons for Spring and the latest update on the ataluren trials.

2010-03-09T19:49:50Z

Update on ataluren Trials
In response to the press release that went out on March 3, 2010 from PTC Therapeutics regarding the ataluren trials, an open conference call was held on March 5 for parents to have their questions answered by PTC. Click here to read notes compiled from this important open conference call.

Six Duchenne Funding Organizations
Meet in Washington, D.C.
The founding members of the Duchenne Research Collaborative Interational (DRCI), which is composed of Association Française contre les Myopathies (AFM), the Muscular Dystrophy Association (MDA), Parent Project Muscular Dystrophy (PPMD) and United Parent Project Muscular Dystrophy (UPPMD), met in Washington D.C. on February 20 along with fellow funding organizations Cure Duchenne and the Foundation to Eradicate Duchenne (FED). The different funding organizations came together to share research strategies and discuss issues of interest to all in the Duchenne community.

BioMarin Company Update
BioMarin Pharmaceutical Inc. announced that Hank Fuchs, M.D., Chief Medical Officer of BioMarin, will present a company update at the Cowen and Company 30th Annual Health Care Conference in Boston on Tuesday, March 9, 2010 at 3:00 p.m. ET. If you are Interested in watching this presentation, you may access a live audio webcast of the conference call via the investor section of the BioMarin website. A replay of the call will be archived on the site for one week following the call. BioMarin developed BMN 195, which is currently in Phase I clinical development for the treatment of Duchenne. (READ MORE)

Important open conference call tomorrow regarding the results of the ataluren trial. Click here for call-in information.

2010-03-04T21:08:37Z

As we mentioned in yesterday's email, PPMD will be holding an open conference call on Friday, March 5 from 12 - 1pm eastern. This will be an opportunity for you to have your questions regarding the results of the ataluren trial addressed. PPMD President Pat Furlong and Senior Director of Research and Advocacy Sharon Hesterlee will lead the call. We are still awaiting word on whether or not an official from PTC Therapeutics will be able to attend.

To participate in this open conference call, please dial 866.740.1260 and enter 9449985. Anyone calling from outside of the U.S. or the Canada, click here for the appropriate dial-in number. There will only be space for the first 150 callers. The line will open at 11:50am. However, the call will be recorded and a link for the entire call will be made available on our website within an hour of the call ending.

The PPMD team will be talking with leadership from PTC tomorrow morning before the noon call. We will begin the open conference call with the information gathered from that conversation.

To submit a question to PPMD, please email us before 10am eastern tomorrow (3/5) at info@parentprojectmd.org. We will compile your questions and address as many as we can in the time available. We realize that questions may arise during the call. However, because of the large number of participants we are anticipating, we will not be able to open the phone lines for questions. Therefore, during the call we suggest you be near a computer so you can email questions to info@parentprojectmd.org. We will address as many of those "live" questions as possible. Any question we cannot answer or do not have time to address, we will follow up on as soon as we have information to provide.

Please make sure you submit your questions before tomorrow morning and if you have not already read Pat's blog from today, please take a moment now to check it out.

AVI BioPharma receives grants totaling $500,000 to support continuing development of drug candidates to treat Duchenne.

2010-02-18T17:59:46Z

AVI BioPharma, Inc. (NASDAQ: AVII), a developer of RNA-based drugs, today announced that CureDuchenne and the Foundation to Eradicate Duchenne (FED), each awarded grants of $250,000 to AVI BioPharma to support continued research and development of the Company’s exon skipping drug candidates for the treatment of Duchenne Muscular Dystrophy (DMD), a genetic muscle wasting disease caused by failure to produce dystrophin. Cure Duchenne and FED are US not-for-profit foundations fully dedicated to supporting the research and development of a cure for DMD.

"AVI shares a commitment with the Foundation to Eradicate Duchenne and CureDuchenne to advance the research and development of disease-modifying drugs, treat DMD, and significantly help patients,” said Leslie Hudson, Ph.D., President and Chief Executive Officer of AVI BioPharma. “We are grateful for the generous financial support of both organizations. This funding will help us continue to advance our drug candidates, including our lead drug candidate, AVI-4658, and move them closer to becoming new treatment options for patients.”

“Exon skipping holds promise as a treatment for Duchenne muscular dystrophy. CureDuchenne is very happy to support AVI BioPharma as it advances these treatments to boys with DMD as soon as possible,” stated Debra Miller, President and Founder, CureDuchenne. “As the parent of a 13-year old boy afflicted with DMD, I shall be very pleased to see AVI’s programs progress as quickly as possible.”

(READ MORE)

Be our Broadway star! Join RFOS at the New York City Half Marathon on March 21 and earn free tickets to a Broadway show.

2010-02-18T17:57:28Z

Parent Project Muscular Dystrophy is thrilled to introduce the 3-2-1 Broadway Challenge! Individual runners who raise $3,000 or more will receive a $200 TicketMaster gift card which can be used to take in a Broadway show to top off their NYC experience! Click here for more details.

PPMD’s February newsletter has arrived. Find out the latest research updates, and mark your calendar for some exciting events

2010-02-09T21:31:07Z

PPMD’s February newsletter has arrived. Find out the latest research updates, and mark your calendar for some exciting events! Read more

Gunter Scheuerbrandt recaps the TREAT-NMD and NIH conference held last November in Belgium.

2010-02-09T21:28:33Z

Günter Scheuerbrandt recaps the TREAT-NMD and NIH conference held last November in Belgium. Learn more about the presentations from this important conference in neuromuscular disease. And if you missed PPMD President Pat Furlong’s blog about the conference, check it out.

When we talk about Duchenne, we tend to focus on our sons. But there is a journey that women go on as mothers, daughters, sisters and as carriers. Read PPMD President Pat Furlong’s latest blog, about how Duchenne affects women, not just emotionally but physically.

2010-02-05T20:30:22Z

It was a long time ago that I sat in the exam room and received the diagnosis. My boys had Duchenne. The diagnosis was followed by a series of questions about my family history, the doctor assuming that somewhere along the line, there was another boy long ago. In my case, there was no history. None. I asked every living member of my mother’s family what they knew, if there was someone who had an unnamed ‘problem’, someone who was weak, or a child who died young from an unnamed illness. One of my cousins talked about my "crazy Uncle Harry” who fell off the roof, but it hardly fit the picture I was looking for. I had a brother Jack, who died young, at the age of 42. A heart attack after jogging. He was my closest friend and I wondered if he might have had a mild form of Duchenne – decent muscle strength, but severe cardiomyopathy. It was always a question.

I guess it would have been easier to simply test my mother, but she had her own issues with the diagnosis. Catholic guilt. She had the sense that a god would punish her for past deeds and I did not want to create additional burden for her. I left it alone, an open wound. For years, I wondered. In retrospect, I wonder if I just wanted to be able to point the finger at someone else. I didn’t want to be the first carrier, the de novo mutation in my family. It seemed so unfair and it felt like I did something wrong somehow. OK, intellectually, I realize, spontaneous mutations occur frequently. The dystrophin gene is particularly susceptible based on its large size. Eric Hoffman suggests 1:10,000 egg and sperm cells carry the mutation as a new event. Random. Right, but emotionally it still hurts. Motherhood and guilt.

Just before the FACES meeting in Colorado, we met with Ivy Scherbarth and Angela Knight. It is always a question. Are you a carrier?. We discussed and compared carrier vs non carrier. Ivy had tears in her eyes as she had looked back through her family, tracing what must have been Duchenne generations back. Angela, not a carrier, said that either way, having a child diagnosed with a genetic disease is accompanied by guilt. I think she’s right. There is no way and no need to compare the feelings. Mom’s feel responsible. But there are more questions and strings attached to the word “Carrier” and the word stings somehow, sometimes feels like an indictment, with questions about prior knowledge, muscle weakness and concerns about the risk heart disease. (READ MORE)

TREAT-NMD helps distinguish between the hype of stem cell research and the hope that this science may bring to diseases including Duchenne.

2010-02-05T20:24:50Z

In recent years the hype surrounding stem cells and the hope they might bring to patients with incurable diseases has grown at an alarming rate. We need to remember that stem cell treatments which make claims that are not based on valid science and good clinical practice can be unethical and potentially harmful.

Clinics providing such stem cell "therapies" and claiming to cure or improve the health of people with neuromuscular disorders (NMDs) without providing scientific proof of these claims, only encourage false hope in patients. Clinics which charge large amounts of money for these therapies may be fraudulent, as they use the hype surrounding stem cells to mislead people for financial gain.

There are lots of trials using stem cells for various diseases, but not currently for NMDs, where promising results from animal studies have not yet been moved into many trials. There is much scientific work to be done before they can be truly shown to be effective and safe in treating NMDs and ultimately hopefully offered as part of clinical practice. (READ MORE)

Parents: Help in an effort to reduce the time to diagnosis! Take a survey about your first concerns for your child with Duchenne.

2010-01-26T21:21:44Z

Attention parents of children with Duchenne and Becker muscular dystrophy (D/BMD), congenital muscular dystrophy (CMD), and spinal muscular atrophy (SMA)

The National Task Force for the Early Identification of Childhood Neuromuscular Disorders is conducting a survey. We want to learn more about parents’ first concerns about their child and how they described those concerns to their healthcare providers. The Task Force understands that there may be a long time between when a parent first has worries about an infant or child and when the diagnosis happens. This survey is one part of an outreach program designed to reduce the time to it takes for families to get an accurate diagnosis of neuromuscular disorders.

The Task Force is made up of medical professionals and advocates from several neuromuscular organizations, including Parent Project Muscular Dystrophy. The Task Force and this survey are funded by the Centers for Disease Control and Prevention (CDC).

If you have a child diagnosed with DMD, BMD, CMD, or SMA, and if your child was diagnosed between the ages of 6 months and 9 years of age, you are invited to take part in this brief survey. The survey is completely anonymous and we do not collect any personally identifiable information.

Visit https://www.surveymonkey.com/s/97KP7XZ to participate in the survey.

Even if you see information about this survey in more than one place, please only fill it out once.

Please respond to this survey by March 15^th, 2010. Thank you for helping us with this important project.

BioMarin initiates Phase 1 Clinical Study of BMN 195 for Duchenne.

2010-01-26T21:16:23Z

BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that the first subject has initiated treatment in the Phase 1 clinical study of BMN 195, a small molecule utrophin upregulator, for the treatment of Duchenne muscular dystrohpy (DMD). Initial top-line results are expected in the third quarter of 2010.

"Duchenne muscular dystrophy represents a serious unmet medical need affecting approximately 40,000 patients in the developed world, and we are excited to advance our program into the clinic in hopes of providing the first therapeutic option to treat this disease," said Jean-Jacques Bienaime, Chief Executive Officer of BioMarin. "BMN 195 has been shown to upregulate utrophin levels in human muscle cells, as a means of augmenting muscle function. In mice with mutations in the normal dystrophin gene, BMN 195 has been shown to improve strength. Therefore, BMN 195 may have the potential to treat the entire spectrum of DMD patients, regardless of the type of genetic abnormality."

The Phase 1 clinical trial is a single-center, double-blind, placebo-controlled, single-dose escalation study followed by a multiple-dose escalation study of BMN 195 administered orally in healthy volunteers. The primary objective is to assess the safety, tolerability and pharmacokinetics of BMN 195 in healthy volunteers, and enable subsequent studies in patients with DMD. (READ MORE)

Important revision to Part 2 of Care Considerations

2010-01-21T21:40:04Z

Please download this version; it should replace any previous version. Change takes place on page 185 where indicated, with correction on page 189.

PBS TV Special – Rare disease diagnosis through technology.

2010-01-20T20:34:24Z

We are pleased to announce that The PBS program, Bonnie Erbe’s To The Contrary, will be producing a three part documentary-style series of field pieces and discussion segments on genetic technologies and it’s impact in diagnosing rare disease. The series will air: Part 1: January 22-24, Part 2: February 19-21st and Part 3: March 26-28, please check local listings for the exact date and time.

The series will describe the evolution of DNA sequencing and will show how DNA may be an effective tool in understanding diseases. This series will also showcase the potential for DNA diagnostics in advancing patient care while building awareness and understanding of this innovative technology and its impact on the rare disease community.

PART 1: January 22-24
The first segment in this three part series is set at Baylor Medical School, and profiles Dr. James Lupski and Dr. Richard Gibbs, who have published extensive research into Charcot-Marie-Tooth disease, a commonly inherited neurological disorder. This segment will provide an introduction and insight into DNA sequencing and the impact this technology has on diagnosing patients.

After the series airs, free copies of the show will be made available on DVD by request through the Children’s Rare Disease Network at www.crdnetwork.org This program was made possible by a generous grant from the Life Technologies Foundation, in partnership with Children’s Rare Disease Network. (READ MORE)

We still need votes!

2010-01-19T16:53:47Z

The Chase Community Giving contest on Facebook is far from over. Your votes, and your friends’ votes can move us up the leader board. Find out how you can help us get votes today!

PPMD President discusses the “marathons of life” in her latest blog.

2010-01-19T16:50:28Z

The Marathons of Life

On January 9, I ran the Disney ½ marathon in Orlando. Well, ‘run’ may be a loose term, I walked, but I walked fast enough to complete the race in the required time, crossing the finish line, greeted by a wonderful volunteer holding the coveted Donald Duck medal. It was my third marathon.

I started walk/running in 1984, just after the word Duchenne entered my vocabulary. I was running for something, my own private marathon. I walked for my sons. I wanted to take steps for them, wanted to make up for the steps they would not take and wanted to take steps for others as well. I didn’t calculate how many steps that might take, but I knew that after taking one step, I would be able to continue the momentum.

And now, my private marathons are public, are part of something much larger than myself, something that belongs to all of us. I’m a believer.

55,000 people were running those races in Disney. 55,000 running for something or someone they care about, something or someone they are committed to. 55,000 people committed to succeed.

There is another marathon, but this time, it does not involve running. This uses no energy and with one single click on the computer, will help change the world for 250,000 boys with Duchenne and a few girls and millions of people who love them.

PPMD recently was announced as a finalist in the Chase Community Giving challenge on Facebook. Over 500,000 organizations competed for 100 finalist slots and a $25,000 prize. You voted, and we made it! Now these 100 organizations will compete for five $100,000 prizes and one grand prize of $1 million.

So we need you to vote. And we need you to tell everyone you know on Facebook to vote. And we need you to get everyone who is not on Facebook, to join Facebook, and then vote. The power your one vote could have is incredible. That vote could mean $1 million for Duchenne research. That vote could buy us time.

1 vote. 1 minute. $1 million for Duchenne research.

And if you have 5 minutes we have a list of super easy, super effective ways you can reach as many people on Facebook and have them cast their vote for PPMD. We need all the support on Facebook we can get. Every vote counts!

I am not a seasoned athlete, but I am always able to finish because of the energy of those around me. That energy, YOUR energy, will help us win $1 million to be used in the fight to end Duchenne.

I hope you'll vote today. No training required.

PTC Therapeutics announces additional study of ataluren in patients with advanced nonsense mutation Duchenne/Becker.

2010-01-19T16:46:01Z

PTC Therapeutics, Inc. (PTC) today announced the initiation of an additional clinical trial of ataluren (PTC124®) in boys and young men with nonsense mutation Duchenne/Becker muscular dystrophy (nmDBMD) who have permanently lost the ability to walk independently. This trial is evaluating the best methods for measuring functional abilities in patients who have lost independent mobility. Patients with nmDBMD develop progressive muscle weakness that leads to deterioration of ambulation, wheelchair dependency, progressive loss of upper limb strength, and eventual respiratory and cardiac failure. The study, which is expected to complete enrollment rapidly, is being funded in part by a $1 million grant from the Muscular Dystrophy Association, and will involve MDA's five-center DMD Clinical Research Network and a site in the United Kingdom.

"Given the relentlessly progressive course of DBMD and its impact on multiple organ systems, we believe patients could benefit from therapeutic interventions at all stages of the disease. This trial is an important step in understanding the best methods for evaluating new clinical treatments for these boys and young men," stated Langdon Miller, M.D., Chief Medical Officer at PTC.

"The Muscular Dystrophy Association is proud to provide $1 million in funding towards this ground-breaking study in DBMD patients who have lost the ability to walk," said Valerie Cwik, M.D., Executive Vice President – Research and Medical Director, Muscular Dystrophy Association. "This trial underscores the importance of MDA's translational research effort. In April 2005, MDA awarded an initial $1.5 million grant to PTC in support of early clinical development of ataluren in nmDBMD. Now we have a trial that will provide valuable information on older DBMD boys and young men that will assist in the design of future clinical trials."

This one-year, Phase 2a study is evaluating the safety, pharmacodynamic activity, and pharmacokinetics of ataluren, an investigational new drug, while assessing the use of several outcome measures of physical, pulmonary, and cardiac function in patients with advanced disease. Approximately 30 patients are being enrolled in the trial at five sites in the United States, which are part of the MDA's DMD Research Network, and at one site in the United Kingdom. Additional information on this study can be found on http://clinicaltrials.gov.

"We are eager to participate in this innovative study of non-ambulatory DMD patients," stated John W. Day, M.D., Ph.D., principal investigator at the University of Minnesota's Paul and Sheila Wellstone Muscular Dystrophy Center. "This precedent-setting trial is an important extension of current studies of younger, ambulatory boys with DMD, and will help define methods for assessing heart, lung and muscle function in patients with more advanced disease as we all continue to work to halt its progressive and debilitating effects on all affected individuals."

PTC announced in February 2009 that it has completed enrollment of a registration-directed clinical trial in patients with nonsense mutation Duchenne and Becker muscular dystrophy. The trial is a multi-center, randomized, double-blind, placebo-controlled study to determine whether ataluren can improve walking, activity, muscle function, and strength and whether the drug can safely be given for a long period of time. Results from this trial are expected to be available in the first half of 2010. (READ MORE)

PPMD President Pat Furlong provides an update on Prosensa and encourages parents not to panic, in her latest blog.

2010-01-15T04:40:47Z

Staying the Course

2010, January

As I spend time on the community site and Facebook, I feel a little jittery. Expectations are high. Everyone is counting days and everyone seems to have a different calendar, a different opinion, and a different bit of information. Some have contacted a clinical center, asking how to get their son in a certain trial, wishing to be first in line. Others have gotten less than expert opinions on genetic testing and the potential ability to participate in an upcoming trial.

This week we have had a number of calls from parents, worried about what is happening with regard to antisense trials and always the ‘when’ question.

The words are familiar – clinical trials, exon skipping (51, 44), first quarter 2010, name dropping of potential sites, conversations with doctors or clinical coordinators followed by a cryptic report on the community site or Facebook. Fear, frustration, disappointment, anger, panic – all wrapped up into one. TIME seems to be slipping away while you are waiting… waiting. The Google alerts are rampant, but it seems there is silence on the exon skipping front, specifically the news you are waiting to hear. And when there is silence, we tend to fill in the blanks… ‘What if something is wrong’, ‘did the company make different decisions’, ‘problems with ???’. Worries increase, tears flow, and the world looks pretty dark. We never simply stop and think – they are working nonstop, need no distractions, and are on track. Once Duchenne enters our lives, we live waiting for the next shoe to drop. (READ MORE)