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The last couple of weeks have brought about an extraordinary display of strength from thousands of patients, parents, doctors, and friends on behalf of those with a rare disease called Duchenne muscular dystrophy, which causes a steady deterioration of muscle mass. By age 12, most boys with Duchenne have lost the ability to walk. The average life expectancy is about 25 years.

Last month, scores of these advocates flew to Washington, D.C., from around the country to attend a hearing of an FDA advisory committee that was set to rule on the viability of a promising new drug to treat Duchenne.

This committee was evaluating the results of a clinical trial of the drug that was conducted among a small group of people who have this disease. Those taking the drug have widely reported that it helped slow Duchenne’s progression and even led to some improvements in quality of life. This FDA advisory panel was meeting to decide whether to allow testing to expand and this drug to be more widely available.


They heard from an entire community of parents whose kids have Duchenne, who are seeing them improve, who know these kids better than any scientist, any doctor, any panelist at the FDA — and who begged for the drug to be approved. The committee, sadly, ruled against the drug. It did so because it essentially applied the same standard to this drug as it would to one designed to treat a much more common disease.

The committee should have instead focused on reviewing the drug in the context of a law passed in 2012 called the Food and Drug Administration Safety and Innovation Act, or FDASIA. It included multiple provisions to address the challenges of the rare disease patient community. In addition to having far fewer potential participants for drug studies, many rare diseases such as Duchenne are also 100 percent fatal, which means there are ethical concerns with giving any participant in a study a placebo.


One of the committee members who voted against the drug was later quoted as saying, “Based on all I heard, the drug definitely worked, but the question was framed differently.”

The FDA posed the question to this committee not by asking if the drug worked or not, but by asking about the process of the clinical trial. Did it have enough people? Was it conducted in the normal way? The drug’s trial, of course, did not meet the FDA’s normal standards, but only because it was not treating a normal condition.

Had the FDA utilized the various tools and authorities FDASIA grants to them to ease the evaluation of rare disease treatments, the committee very well may have reached a different conclusion. Instead, these patients and families are on the verge of losing access to the drug.

We should all try to put ourselves in the position of one of these parents. Imagine your son has Duchenne. He is taking this experimental drug. You see how he is improving. This is groundbreaking to you because typically no one improves with Duchenne. Usually the child gets worse, and worse, and worse.

Yet now a drug comes along that gives you hope, but the FDA yanks that drug out of your child’s hands.

It’s easy to understand the desperation of these parents and exactly why they were so disappointed by the advisory committee’s ruling. Fortunately, there’s one last chance. The senior leadership of the FDA has the ability to override the committee’s decision and allow this drug to move forward. I personally hope they’ll do so.

I believe the FDA should listen to those with direct experience with this drug and the disease it treats, just as Congress gave them the power to do. These parents and advocates know that this drug is safe and effective. They are the primary caregivers of their children and they know improvement when they see it.

I hope that the FDA will hear their calls for action. The entire Duchenne muscular dystrophy community deserves this chance to fight this disease.

Republican Senator Marco Rubio represents the state of Florida. 

  • I understand the issue and the awful situation. If parents and patients and caregivers continue to push for rapid approval that circumvents the process that assures safety and efficacy – those people must sign an affidavit that is witnessed and/or notarized that says they will never pursue and legal action against the FDA, the manufacturer, physician etc.

  • Look, Duchenne is debilitating, but this drug doesn’t work anywhere near well enough. The response is barely there at best. If (and this is a big if) the drug was going to be provided free of charge, then sure, it should be approved. However, it wouldn’t be just given away. I agree it must be frustrating for patients and caregivers, but better that an ineffective drug not be available rather than patients spend money on a treatment that does nothing measurable.

    • Testemonies of the patients, their families and caretakers clearly support the evidence that eteplirsen is working. Adcom panel member who voted against said himself, that he believes the drug is certainly working in a way they don’t fully understand.
      I’ve wrote to Janet Woodcock about the possibility that the level of dystrophin increase isn’t that important, but the ability to stop decreasing dystrophin or just a minimum increase could be the key.
      There are still a lot of questions about how DMD works and about how the horrible disease can be treated.
      According to the FDASIA the kids diserve the chance to get a safe drug that might work a little – even if it comes out later that it doesn’t. Accelerated approval is the only one and right decision the FDA can make here. Anything else would be a terrible mistake. I don’t know anyone having DMD, but I’ve watched live the entire panel meeting and it’s 100% clear for me that the FDA has to give accelerated approval under FDASIA. The voting questions were totally confusing too – with one clear question, the vote decision would have been totally in favour for this drug.
      They have nothing to lose and money is the least thing these families care about. For God’s sake, the kids are dying without any drug!!

    • It’s great that the patients and their caretakers believe eteplirsen is working, but confirmation bias and placebo effect exist. We know how drugs like this work: they cause parts of their gene targets to be skipped over in the final protein.

      There are not “a lot of questions about how DMD works.” (Although this suggests that scientists/physicians haven’t been communicating this well to the public.)

      The kids are still dying with the drug.

      Accelerated approval would be the only right decision if the kids would get the drug completely free of charge.

  • This is a very well written article and I agree with your opinion. The same scenario has happened time and again with oncology drugs for patients who may have survived longer and had a better quality of life on a new therapy although the overall analysis just missed the mark of being “statistically significant”. When there is no other option, a new drug that is found to be safe may be a patient’s only hope. The FDA does need to lend a stronger ear to patients and advocacy groups when there is hope found in new therapies for rare, fatal diseases.

  • I don’t know anyone with DMD, but deeply hope the FDA makes the right decision and approves it. I’ve watched the entire panel meeting and for me there is no doubt that eteplirsen is working and helping those boys.
    Wish good luck and all the best for the kids and their families.
    regards from Germany,
    Cem Koc

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