he 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.