The families that fought for controversial new drug

(CNN)For years, Jenn McNary felt she was fighting a losing battle.

After spending four years petitioning the US Food and Drug Administration to approve the drug eteplirsen, the agency initially advised against it. It was a potential treatment for Duchenne muscular dystrophy, a rare form of the muscle degenerative disease — the form that her two sons have.


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Duchenne muscular dystrophy occurs in one out of every 3,600 male infants, and it’s even rarer in girls. The deadly diagnosis is due to an inherited gene mutation, although it can be caused by a random gene mutation, too.
Boys with the condition don’t produce the protein dystrophin, so their muscles are weak and can be easily damaged. Children can appear to develop slowly, and are usually diagnosed by the age of 5. Many with Duchenne rely on wheelchairs as their muscles quickly lose strength, and begin to have difficulty breathing around age 20. Many die from lung disorders within a few years after that.
In a rare turn, the advisory committee’s decision was overturned by Dr. Janet Woodcock, director of the FDA’s Center Drug Evaluation and Research. The approval was challenged by the committee yet again; it said Woodcock was biased, in part because of her active role in speaking with patient advocates. The decision ultimately went all the way to FDA Commissioner Dr. Robert Califf, who ruled in favor of Woodcock.
In an assessment (PDF) of the disagreement, Califf said, “I believe that the quality of thinking on both sides reflects the importance of clinical and scientific expertise coupled with due process within the FDA. I find no basis for a view that Dr. Woodcock was unduly influenced by involvement with the patient community or other external pressures…in addition serious shortcomings present in the eteplirsen development program should not be allowed to establish a broad precedent for therapeutic development in rare diseases.”

Emotion vs. science

So did emotions win over science?
Paul Melmeyer, associate director of public policy at the National Organization for Rare Diseases, says no. He doesn’t see the eteplirsen decision as a precedent, but rather, the course of action the FDA has taken during the past 15 years to incorporate the views of patients and their advocates.
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“There’s only so much you can understand by looking at the data and the statistics. If you finally hear from patients about what kind of risk they are willing to take, we believe that really allows FDA reviewers to have a really full picture,” said Melmeyer.
The drug won’t be cheap. It’s expected to cost close to $300,000 each year, but because there are so few cases of Duchenne, it is expected that much of it will be picked up by insurance companies.
While McNary’s boys are already on the drug, she’s excited to see it made available to others. Indeed for parents like Kelly, for example, the approval could open a new chapter in their lives. She and her husband have already contacted their insurance company to obtain the drug for their sons, 16-year-old Liam and 19-year-old Jacob.
“I can barely contain myself,” Kelly said of the approval.
She believes eteplirsen’s approval could usher in new therapies and potentially even a cure for the Duchenne.
“It’s so exciting,” Kelly said. “We want every single boy and girl to get it — my goal in life, so that no one ever hears…’Your son has Duchenne.’ ”

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