Why the December FDA Policy Forum is important to every Duchenne family – from rare mutations to Exon 51

Guest post Lance Hester. Lance is a PPMD Board Member and lives in Gig Harbor, Washington, with his wife, Janelle, and their two boys, Brayden and Micah. Micah was diagnosed with Duchenne in 2005.

My son, Micah, was 9 ½  during the early part of 2011. That’s when I remember him beginning to avoid walking any more than he had to. We bought him a scooter to assist in the longer walks, and navigating the neighborhood. Our goals, of course, were for Micah to be as comfortable as possible, and to preserve his leg muscles for as long as possible.

What else could I do to help Micah? Other treatments? Different doctors? Better physical therapy? More stretching? Heel cord surgery? Clinical trials? I explored everything. 

After asking lots of questions, and after doing even more research, I finally concluded there were two reasons Micah’s future needed a little more hope. Reason number one – his mutation. I reviewed his genetic test interpretation,

“According to the genetic report, your son has a splice site mutation in his intron 70 that has led to his muscle disease.”

This made my trip to ClinicalTrials.gov a quick read. Clearly Micah’s specific mutation was not being addressed.


While researching trials, I noticed that regardless the mutation, trials all included the Six Minute Walk Test (6mwt) as a performance qualifier. Another qualifier was for participant to have reached 7 years of age.

Given Micah’s obvious increasing strain walking, I wondered if he would even be able to walk continuously for six minutes. I reflected over his development, and I looked over family pictures. My best estimate - Micah would have been able to perform a 6mwt for exactly 20 months of his post-7 year-old life. 

Micah’s condition forced me to confront some truths. First, the 6mwt was the only outcome measure drug companies were using. And second, six minutes of walking ability necessarily excludes the vast majority of Duchenne boys from trial participation. I reviewed trial data that had removed boys who lost the ability to walk during the trial; and I talked to a family whose son had been excluded from a trial because he walked too far. Within existing trials, opportunities were even more limited than I knew.

I began to pretend a few years from now a drug is developed that would address Micah’s mutation. I assumed best case scenario, this pretend drug would allow him to build muscle and possibly walk again; I also assumed a second scenario that the pretend drug would slow the disease progression. Great – but despite having decent medical insurance, I also began thinking about the reality of the claim process, especially for the latter, disease slowing version of my imaginary therapy.

The insurance companies I know have a reflex when it comes to expensive and less-than-conventional testing and therapies. That reflex includes a big rubber stamp bearing the word “denied.” It’s clear to me that in order to make future drugs available to boys with Duchenne it is in everybody’s best interest for the outcome measures to include something other than the ability to walk 6 minutes. My self interest recognized that even if something in the immediate pipeline had an application that could later be relevant to Micah’s rare mutation, there would have to be a recognized reason justifying not just him being on such a therapy, but requiring our insurance company to pay for it.

Other members of the Duchenne community fleshed this out with me. I cried on Pat Furlong’s shoulder a number of times. Acceleron quit responding to my inquiries about the future of their Myostatin inhibitor trial. (Which became irrelevant when the trial was cancelled anyway.) I learned about biomarkers, and that Duchenne lacks one. I learned the expensive reality of taking a drug to market ($800 million to $1 billion on average at approval). And I learned the economics of future mutation-specific drugs ($200,000 - $400,000 per year).

Meeting with the FDA

I joined PPMD’s first meeting with the FDA at its White Oak campus in April of 2012. The goal was one of listening, and we went away realizing how little data the industry players had presented the FDA and that the only outcome measure everyone posed was the 6mwt. We returned, developed a new agenda for a subsequent meeting, and went back to the campus with our PPMD-affiliated team in October of 2012. During the October 2012 meeting, we learned that the FDA lacked a sense of how much risk our patient population is willing to assume. Then, after trouble-shooting hypotheticals with the FDA, and learning that it not only lacked additional data that might support or replace the 6mwt outcome measure, we decided to confront industry players. That happened during two full days of meetings in December of 2012. Our team was able to hear first hand whether drug companies had considered only the 6mwt, whether a secondary measure was being assessed, and whether their future success factored-in non-ambulatory kids as clients.

In short, we had listened to two strong messages. The FDA was stating they had only ever approved the 6mwt because that is the only measure ever proposed, and clearly it had not been exposed to additional data that might make other measures applicable as well. Industry was saying it had never proposed an additional outcome measure because it had no reason to believe the FDA would approve anything but the 6mwt. Industry had failed to fully utilize the natural history data that had been amassed over the years, and it was time to give the FDA a look into the minds of Duchenne families.

Under certain circumstances, legislation allows the FDA to process under an Accelerated Approval track. Our team has attempted to flesh-out whether that could apply to the drugs currently in trials. In short, the FDA seems reluctant to answer that question without more information potentially justifying a fast track approach.

So…we returned to the FDA on July 9, 2013. Since we had requested the top decision-makers be in attendance, it took months of persistence to get the FDA to meet again. Not that they didn't want to, but making arrangements between so many high level decision makers is never easy to arrange. We let them know we were returning to present patient/family risk benefit/risk data from the comprehensive study that Holly Peay had completed. The agenda also included an overview of the Duchenne natural history data collected over many years by Dr. Craig MacDonald. We entered the meeting agreeing to conclude with a request the FDA participate in a policy forum, to included the FDA, industry, and Duchenne families. 

Holly Peay’s presentation clearly enlightened those at the table. The agency provided its input for potentially supplementing the data with answers from boys as well as their parents. The FDA limited Dr. MacDonald to ten minutes, during which time he presented a brief overview of what is known about the disease’s predictive progression, and a quick look at the data behind the conclusions.

We knew the meeting was a success when the CDER Director herself, Janet Woodcock, proposed exactly what we hoped to request - a collective meeting, a forum perhaps, as the next step toward moving things forward between industry, Duchenne families, and the FDA.

Today & Moving Forward

The last time Micah used his own legs to walk was in August of 2012. He turned ten the week before we agreed he would no longer have to be mortified with the fear of his little legs collapsing under him. Like all Duchenne boys, Micah’s current condition can be shown on Craig MacDonald’s chart. His disease has progressed to a certain point, and the data we have collected over the years shows the disease will take Micah to the next stage. Without new or better therapy, and without better protection for his current condition, Micah will advance to the next phase whether I like it or not.

Upper body and arm outcome measures are currently being developed. The FDA needs natural history data to support upper limb outcome measures. The University of Florida has been amassing MRI data. Existing and previous trials have collected data tracked from the participating boys. This information will continue to be collected, and it will continue to support the efforts of those who take aim at curing or treating boys like Micah into the future.

Until “the future,” I’ve got a boy to love just as he is. He will continue making himself available for others to study his disease progression. He will continue to make his heart available, and will hopefully benefit from the cardiac drugs he takes. He will remain optimally healthy, if I have anything to do with it. And this will make his ability to participate in future trials or programs, and hopefully treatments optimal as well.

I am proud to be part of a team willing to ask tough questions of the FDA. I am proud to have been part of the same group while pressing drug manufacturers for answers. It was satisfying watching the likes of Holly Peay and Craig MacDonald show the FDA answers to the questions it wanted answered. And it has been enlightening contemplating the complexity of paving the way for kids like Micah to receive the benefit of treatments someday soon– treatments that I can only pray are not rejected by insurance. Our teams work has culminated in an opportunity to meet with all stakeholders. I’m hopeful all the best from all corners of the Duchenne camp will show up. The FDA needs our input. Industry needs our input. And our community needs our continuing dialogue if we are to make a long-term difference for all boys with Duchenne.

The optimism of PPMD’s approach to this extremely complicated disease is often summed up with this phrase:

Together we will make a difference.

This phrase has new meaning to my family and Micah. Sure, it applies to the community of folk willing to part with their hard earned money to help in the fight to find treatments and cures for our boys. Perhaps more importantly, its about the agencies such as the FDA further demonstrating their interest in the disease, giving the rest of us some insight into how it functions and what it needs to see; its about families telling the FDA their story; and its about drug companies taking a look at how they approach outcome measures, and the economy of trials and treatments.       

This is exactly what we expect to occur during the policy forum with the FDA on December 12. It is a meeting that is not mutation-dependent, and it is about the bigger picture of moving from the lab to trials to the marketplace. Whether you are frustrated by recent news of the FDA’s response to Sarepta’s New Drug Application, or whether you want to know how to make your son’s story relevant to the development of future therapies, I hope you can get involved by at least telling the FDA what matters to you for the long-term good of attacking Duchenne.


Please take a moment to Share Your Story. And if you are unable to attend the Duchenne Policy Forum on December 12, I hope you’ll watch the live stream.

Important links 

Share Your Story

Watch the Duchenne Policy Forum live stream

PPMD would like to thank John Owen’s Adventure, Inc., for their support of the Duchenne Policy Forum. JOA and the Dumm family have been longtime supporters of PPMD and we are so fortunate to have their sponsorship for this important meeting.

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