The DMD community meets the FDA – Part – 2

The DMD community meets the FDA at the AdCom conference. Testimonial, part 2.

Indeed, it was tough for me to attend the AdCom Conference. Throughout the day, monuments of data were built and destroyed, all expertly worded and cleverly illustrated with all kinds of graphs and charts. We certainly got our fill of graphs and charts …

And when you listen for two long hours to the list of problems your child is currently facing, or that he will be facing sooner or later before dying, it’s just horrible.

It’s quite an experience to witness some 51 testimonials and see the power that emanates from these people: children standing up (no small feat when it comes DMD), children begging to be understood by a group of adults who listen while pushing pencils in front of a crowded room of people holding back their tears. People in authority who will be making decisions on their future.

Here are some of the criteria the FDA uses to measure the effectiveness of treatment:

  • The 6-minute walk test;
  • The time children take to get up from the ground;
  • The age at which children lose the ability to walk;
  • Dystrophin production rate;

Here’s what they do not take into account:

  • The ability to walk (even if it is less than 6 minutes)
  • The ability to get up by one’s means (regardless of time)
  • Upper body mobility;
  • And the autonomy that children manage to maintain daily.

Austin Leclaire, 15 years old, went up to show us a video in which, after 62 weeks of treatment, he was able to lift his arms above his head, and which shows that he has gotten stronger instead of declining. What does this mean to a person with Duchenne muscular dystrophy? “What does that mean for me?” asks Austin. “It means independence; it means that I can feed myself … ” Read more

They came and went one after the other and were unanimous, including young people who have four years of treatment behind them: they get stronger instead of declining.

It’s truly surreal to have to watch such a dehumanizing spectacle. Again, data tyranny will win over those 51 people who were living proof of the treatment’s success. A reality that is hard to fathom.

Towards the end of the meeting, I had to get out to clear my head because I couldn’t make sense out of such a decision (not final, but still). So I headed to the lobby, and I waited for it to end. What I saw got even more upset: sad and bewildered mothers and fathers discouraged to learn that the committee would not make a recommendation to the FDA for approval of a drug that is helping to save their children.

The worst was having to see young children who had shared testimonials come out of the conference in tears. Just imagine the grief and frustration experienced by these children. The adult world, the decision-makers, people who represent society had now abandoned them.

This great community, which seems animated by a supernatural force and must still plead for access to treatments and technologies that it has often helped to fund through numerous projects over the past 20 years, this community is once again facing a wall.

I think we have no choice but to move forward TOGETHER and pool our efforts to make sure that the kids get the treatment they need: let’s remember that no one is safe from RARE DISEASES…

Read more

Forbes Market  – (petition)  –  Boston Business Journal   –  CBS News

Boston Globe  –   Austin Leclaire  –  PPMD  –   FDA AD-COMM  –  Health Canada PAS

The Jett Foundation   –   PPMD  –  Duchenne AllianceNew treatments for DMD a stalled process

The Duchenne muscular dystrophy community meets the FDA – Part-1

On April 25, two representatives from the Force traveled to Washington, DC, to attend the AdCom Conference of the Food & Drug Administration (FDA), which focused on the approval of new treatments for DMD.

The following is what they wanted to communicate to the DMD community on their return to the US capital.

 “FDA, please don’t let me die early …”

This was the amazing conclusion of the advocacy speech by Billy Ellsworth, 15, who stood – in every sense of the term – in front of the United States Food & Drug Administration (FDA) members who were present the event. At 15, he is still able to stand on two legs, which quite unusual given the course Duchenne muscular dystrophy (DMD) normally takes: this is because, for several years, Billy has benefited from Eteplirsen treatments.

Out of the corner of my eye, I gaze at Marie-Catherine, my friend, and partner in La Force Foundation, and I wonder how she manages to hold out, listening to all those testimonials presented by children currently living with more advanced stages of dystrophy muscular dystrophy. Last year, we managed to obtain special access to another treatment, Ataluren (Translarna) for her son Anakin; efforts have also benefited four other families in Canada; but now, just as with Eteplirsen, this medication is under threat of not being approved and may be lost, despite having shown immediate results (after 3 months) in Anakin’s case.

At the big Monday conference, it was as if the Eteplirsen treatment was being brought before the “FDA court”. In the morning, Sarepta, the pharmaceutical company, was first filed its evidence, followed by the FDA, which made its argument using graphics and PowerPoint presentations galore; this was followed in the afternoon by 51 testimonies on the treatment of children, families, and researchers, who made their case in front of the committee that will subsequently be making recommendations to the FDA. The FDA will then debate the matter and decide whether or not to approve the treatment.


In the world of rare diseases, it’s virtually impossible to have access to the same kind of data as for diseases with a larger pool of patients. In the case of DMD, each child develops the disease at his own pace and each case is unique, so it’s very difficult to measure the impact of treatment on a small group of patients. Each treatment in development can only apply to approximately 13% of a given population (in the United States, for example, this represents 15 000 afflicted children). When it comes to rare diseases, approval standards must be more flexible and progressive, otherwise, it’s virtually impossible to develop a treatment and hope to get approval. Some scientists believe that a combination of treatments could well constitute a cure, but if no treatment is approved, it will discourage other biotechnology companies from developing other treatments, since these two can only handle one mutation and are bound to meet the same type of obstacle.

You may be asking yourself what are the consequences of a positive or negative decision by the FDA for Canadians? You won’t be surprised to hear that, historically, Health Canada’s decisions have been influenced by those of our neighbors to the South.

During the 11-hour conference, I often watched my friend Marie-Catherine with an anxious eye, knowing that it’s extremely difficult for her to hear these testimonials and having to face a reality which is not yet hers since her son is only 8 years old.

I look at all these people around the room – many of which are directing a foundation in addition to caring for their child (or children: some have three!…) –, and all I see is courage. Some of them, like Pat Furlong, founder of PPMD, is part of the first generation – their children died of Duchenne muscular dystrophy – but they continue the fight.

Personally, I can tell you that this long day forever changed my perception of life’s problems. I feel sad for these parents, but I know will never really understand the pain they endure every day.


Read more

Forbes Market  – (petition)  –  Boston Business Journal   –  CBS News

Boston Globe  –   Austin Leclaire  –  PPMD  –   FDA AD-COMM  –  Health Canada PAS

The Jett Foundation   –   PPMD  –  Duchenne Alliance

New treatments for Duchenne muscular dystrophy: a stalled process

Initial Duchenne muscular dystrophy diagnoses usually come about around age 4 or 5 years, mostly in young boys. Duchenne muscular dystrophy often referred to as “DMD”, is the most severe form of muscular dystrophy.

It is a degenerative disease that gradually weakens every muscle in the body, and that inevitably leads to premature death when afflicted kids reach their twenties. The corticosteroid-type treatments currently available – used for anti-inflammatory purposes – can prolong certain muscle functions; however, the side effects of these products are devastating in the long run!

A difficult approval process for effective treatments

For the first time in the history of Duchenne muscular dystrophy, innovative treatments that directly address the genetic causes of the disease are currently undergoing the FDA (Food and Drug Administration) approval process in the United States: Ataluren (PTC Therapeutic), Eteplirsen (Sarepta Therapeutics) and Drisapersen (BioMarin).

Ataluren is used in cases where on children happen to have a so-called “nonsense” genetic mutation, while the action of the other two, eteplirsen and drisapersen, has to do with the “exon skipping” principle.

Earlier this year, Sarepta Therapeutics, the pharmaceutical company developing Eteplirsen, was informed that there would be a delay in the process; the most recent news is that the matter is to be re-evaluated by a committee. Less than a month ago, it was PTC Therapeutics’ turn to be told, much to their surprise, that certain elements of information were missing, despite the fact that its drug, Ataluren, had been approved in Europe (May 2014 – read more).

Undue delays for children who have no time to wait

The FDA’s decisions influence those of all other jurisdictions. Failure to get approval for these pioneering treatments could have the effect of discouraging other pharmaceutical companies from developing alternative treatments for Duchenne muscular dystrophy. Worthy of mention is the fact that, although the data is currently deemed insufficient by the authorities, clinical trials have clearly demonstrated the positive effects of these treatments on children, with very few side effects.

These delays sometimes cause pharmaceutical companies to lose significant value in the stock market, which is unfortunate. But even worse are the years of life the kids lose due to a blocked approval process that prevents them get the treatment they need.

In fact, the community has but one choice, and that is to take action… Otherwise, no treatment!

Knowledge before action!

Of course, we do not at present have all the answers: Team La Force’s mission is to develop expertise in the field and broadcast to the Canadian Duchenne Muscular Dystrophy community any relevant information pertaining to access to treatment.

We’ve given ourselves the mandate to inform the DMD community because we believe that disseminating knowledge is a great way to change things. With this in mind, we are announcing with great pleasure that La Force will be attending the FDA-AdComm conference to be held in Washington in late April. Our goal is to acquire as much knowledge as we can about the North American treatment approval processes and keep you informed.

What should you do as a parent of a child afflicted with Duchenne muscular dystrophy?

If your child is suffering from DMD, we suggest you do the following:

  1. In consultation with competent medical personnel, determine your child’s specific genetic condition, find out the exact reason why he/she is afflicted with DMD; it will guide you as to what treatments, existing or in development, are appropriate to his/her situation;
  2. Learn about these treatments and work to get access to them: it’s a good idea to consult with us, because, with time we’ve learned a lot on the subject matter;
  3. Communicate with the people around you and share the information in order to raise awareness about the disease, about the availability of new treatments and about the long and laborious approval processes;
  4. Follow us on the web and on social networks in order to stay abreast of developments and benefit from the support of the DMD community.

Link about New treatments for Duchenne muscular dystrophy


Sarepta Therapeutics

Eteplirsen – The Facts About Eteplirsen – Uptick Analyst – FDA Approval Status – FDA: Please accept Sarepta’s New Drug Application (NDA) for Eteplirsen



Drisapersen – FDA Approval Status (Drisapersen (Kyndrisa) – FDA Decision on Drisapersen for Duchenne Muscular Dystrophy


PTC Therapeutics

Fierce Biotech – PTC: With no evidence of Duchenne MD efficacy, FDA barred regulators’ doors to ataluren

Results from Phase 3 ACT DMD Clinical Trial of Translarna™ (ataluren) – Ataluren at Health Canada – Recommandation pour le remboursement NICE (UK)


FDA Draft Guidance on Duchenne

The Wall Street Journal