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How the FDA can save my child – and yours

by Tracy Seckler - 05/25/16 1:31 PM ET

“Do I look stupid in these pants?” my 15-year-old son asked me as he got ready for school. I looked up from the matzah brei frying in the pan, and my eyes welled with tears. I was overcome with gratitude that, on this particular morning, Charley’s biggest concern was his outfit.

Late the previous evening, I returned home from an intense 12-hour meeting of the Food and Drug Administration (FDA) where the fate of my son and thousands of other children was discussed. Charley has Duchenne muscular dystrophy, a degenerative muscle-wasting disease that is universally fatal.

{mosads}He’s aware that the weakness he feels in his legs will soon render him unable to walk, and that he will require full-time use of a power wheelchair. He knows that soon after he takes his final steps, his trunk and arms and fingers will give way. He knows that he will likely endure complications like contractures and scoliosis, and require cough assist and breathing machines just to get through the night. He knows that his heart and lungs will likely fail in his late teens or early 20s.

We’ve never kept it a secret, so he knows.

What Charley doesn’t know is that a small group of kids like him is staying out of wheelchairs and keeping their lungs stable longer than expected, thanks to a new precision medicine treatment called eteplirsen. The deadline for the FDA to decide whether they will approve the new medicine was tomorrow, but the company just announced today that the FDA needs more time. With every day that goes by, Charley and all kids with Duchenne get weaker. The delays — and there have been several — are literally killing us. The FDA has the data it needs to grant accelerated approval, which at this point is an ironic misnomer since this process has dragged out for years. If they approve the drug, Charley will soon get a chance to try this cutting edge treatment approach. If they say no, he doesn’t have a shot at beating the hideous prognosis.

Last month, more than 800 people showed up at the FDA meeting where an advisory panel considered the data on this experimental drug. Many of them – including kids around Charley’s age – testified about their experiences taking the medicine in a clinical trial that has been going on for nearly five years.

The boys and their parents explained that weekly infusions of eteplirsen have slowed their aggressive decline in muscle function. One boy showed a video of himself raising his arms above his head, a simple feat he was unable to perform before starting the treatment. Another talked of how he is still walking strong, despite his doctor’s prediction that he would be in a wheelchair by now. One mom explained that years ago, her son was following the normal course of the disease but now — at age 13 — he is completely independent. “Like all of the 7th graders in our neighborhood, he walks around with his friends to go to the park, out to eat, or just to hang out.”

A veritable Hall of Fame of Duchenne experts testified as well, all in favor of accelerated approval for the drug. Scientists and physicians came from Harvard, Stanford, Johns Hopkins, Northwestern, and UCLA, among others – all with decades of experience studying and treating this disease. Every single one of them said that the data support the drug’s approval.

There was no mention of drug risk or danger; in five years of dosing, not one serious side effect has been documented.

At the end of the day, the advisory committee voted on several questions. Most importantly, they voted on a question related to the potential for accelerated approval. Did the drug company show in a well-controlled clinical trial that the drug produces enough of the missing protein to likely help boys with Duchenne? Seven said no, and six said yes.

The reaction to the vote was excruciating to witness. Heads dropped into hands, tears streamed down faces, angry shouts erupted from the crowd. One boy rushed the stage in his power chair in protest. Later that night, the mother of a boy who had testified shared her son’s reaction to the vote on Facebook. “Well, I guess I’m going to die early,” he said.

A 2012 law known as the Food and Drug Safety and Innovation Act requires the FDA to weigh the risk/benefit profile of a fatal disease with no other treatments, a crucial factor that was not written into the questions posed to the advisory panel. The Agency is also mandated by law to take into account the patient perspective, which was vividly presented at the meeting via individual testimonies and a quantified patient reported outcomes program.

Charley cannot benefit from this drug. It is a personalized medicine that aims to treat 13% of kids with the disease who have a specific genetic mutation. But once eteplirsen gets approved, the drug company will develop variations to treat other mutations, and even other diseases.

I have faith that the FDA will incorporate all of the inputs provided by the drug company, the patients, and the esteemed experts and come to the right decision within days. Accelerated approval will enable access for all eligible patients, allow additional precision medicines to get moving through the pipeline, and ensure many mornings to come when Charley’s biggest worry is his pants.