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Children's Hearts and Legs Fail While 'Flummoxed' FDA Fumbles

The FDA's pronouncement that the drug company did not have enough data to warrant a New Drug Application was a complete reversal of the agency's stance just six months earlier. And it was based on erroneous logic and false information.
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On this very morning one year ago, I woke up to an email that marked the beginning of a surreal nightmare that still -- to this day -- has no end in sight. The subject line was simple. Just one word, all caps. Short and harsh, it starts with the letter F, and you can guess the three letters that follow. It's the only word that suffices when you know you are completely screwed.

The body of the email had no text, just a link to a press release from a biotechnology company that is developing new medicines to treat genetic illnesses. One of those illnesses is a devastating, uniformly fatal disease that will kill my son Charley if a therapy does not become available in time to save him. My friend who sent the email has two sons with the same disease.

The press release announced that the Food and Drug Administration was not ready to accept a New Drug Application for a medicine that can fix a genetic mutation that leads to Duchenne muscular dystrophy, the most common fatal genetic disease to strike children around the world. The drug is based on an exciting new platform that ingeniously targets the genetic flaw -- it coaxes the body to produce dystrophin, the essential protein that children with Duchenne are missing. Without dystrophin, every muscle in the body deteriorates, including the heart and lungs. Children with the disease experience devastating loss of all muscle function and typically do not live past their 20s.

The FDA's pronouncement that the drug company did not have enough data to warrant a New Drug Application was a complete reversal of the agency's stance just six months earlier. And it was based on erroneous logic and false information. Despite my friend's fatalistic email that indicated we were screwed, I was hopeful that logic, reason and data would prevail. I figured that if we could clearly explain the FDA's mistakes and support our assertions with data and expert input, surely we could get this drug back on the fast track to approval.

I was buoyed by the knowledge that the law was on our side. In 2012 a new law called the Food and Drug Administration Safety and Innovation Act (FDASIA) was passed with bipartisan support. FDASIA encourages expedited approval for medicines that treat fatal diseases with no other therapies. There is explicit encouragement for drugs that act on a biomarker "reasonably likely to lead to clinical benefit." This drug was a perfect candidate.

Three months after "Black Tuesday," a group of patient advocates brought seven of the world's top experts to meet with the FDA officials who hold our children's lives in their hands. All seven experts agreed that the drug is safe, that the evidence available so far indicates that the drug works, and that the drug should be approved while a bigger trial is conducted to gather even more evidence of safety and efficacy. These experts, who have decades of combined experience treating and studying this disease, were unequivocal and unanimous in their support of accelerated approval for this drug:

"This drug is producing the missing protein. It's bleeding obvious."

"The patients are stabilized. They are making dystrophin. This is really quite an amazing feat. I support this."

"The main message is, and this is really incredible...this drug works."

"When my patients ask for this drug, I cannot think of one good reason why I cannot prescribe it."

With such unambiguous support from the world's experts, how could the FDA conclude that there is not enough information to consider approval? The answer is simple. They made a mistake. In fact they made a few mistakes. That wouldn't be so terrible if they were willing to acknowledge their errors and adjust their guidance to the drug company accordingly. During the past year, more and more evidence has emerged to make it easier for the agency to do that. Scientific articles in peer-reviewed journals have debunked all three of the FDA's erroneous assumptions about the role of dystrophin in the disease, how we measure dystrophin, and the natural history of Duchenne.

A year ago today, that email from my friend gave me a scare. But by that afternoon I felt much better. I knew that with the help of the world's experts we could educate the FDA. If that failed, I knew we could rely on the democratic process to hold our government officials accountable. But perhaps I should have known what would happen, given the dynamics. A group of government officials with MDs and PhDs at the ends of their names are clearly not keen to be corrected by a group of women whose official title is "Ms." As recently as two weeks ago, a high-ranking FDA official even went so far as to say that we -- patient advocates and parents of children living with a death sentence -- are a distraction to the work of their scientists.

We ask for one simple action step. Allow an advisory committee of outside experts to evaluate the data that has been collected to date. Let those experts decide if this drug should be made available to all children who can benefit. And do it now, because the FDA Division of Neurology Products has waffled for two full years now, and I am running out of time.

My son's life is slipping through my fingers. Two years ago he was playing basketball. Last year he could still struggle up a flight of stairs. Now we only take the elevator -- and if there's no elevator, we don't go. In the meantime, the FDA has said it is ready, then it's not ready, then it is ready, then it's not ready to review a New Drug Application for this promising new medication. No wonder a recent Business Week article referred to the FDA as "flummoxed" and "equivocal." Please, stop the madness. Convene an expert panel today.

To hear from some of the other moms fighting with me, click here: