Muscular Dystrophy: Heartbroken Family Awaits FDA Decision on Experimental Drug

Max, Rowan and Charlie Vertin’s muscles have been slowly collecting damage since the day they were born. Someday, they will not be able to walk. They will not be able to stand. Eventually, they will not be able to live. The brothers, ages 6 through 11, suffer from a debilitating and deadly genetic condition called Duchenne muscular dystrophy (DMD).

Yet on September 28, Max, Rowan and Charlie Vertin got dressed up. In dark suits and blue shirts, with serious expressions on their round faces, they walked to stand next to their mother in a very beige room outside Washington, D.C. The people in that room, they believed, could change the course of their lives.

For years, the Vertin brothers have been participating in a clinical trial for a new medication called ataluren, intended to keep the progression of their disease at bay. By October 24, they’ll know if they will be able to keep taking that drug. That is the deadline for the Food and Drug Administration to make a choice. The agency could approve the drug, allowing the brothers and others like them to continue to take it. Or it could reject the drug for the third time and throw them into an uncertain future.

An FDA committee has already voted that data about the drug’s effectiveness was inconclusive. The agency’s final decision almost always echos the decisions of its committees. So, if this were any other kind of drug at any other time in FDA history, the FDA’s final answer would be a very predictable no.

If they do say no, the Vertins could lose access to the drug that has stabilized their condition. But there’s still a chance the FDA could approve the drug. Input from people affected by DMD may have convinced the agency once before to approve a drug for the condition despite iffy data. That is what the Vertins—and the company that produces the drug—are hoping will happen again. […]

DMD is one of a class of similar genetic disorders. About 15 boys out of every 100,000 in the United States under 24 years old have DMD or a milder form, called Becker muscular dystrophy. (Most of the children affected are boys.) The illness affects the way their legs, heart, and lungs work. […]

Ataluren works by ordering a cell to use a slightly different piece to build the protein—as if someone spray-painted the word “don’t” on the molecular version of a stop sign. Exactly how it does that is still mysterious. A paper published by the company’s scientists in the Proceedings of the National Academies of Science said it probably affected the ribosome, a key part of how proteins are put together in a cell. (Researchers not affiliated with the company did not find the same kind of activity.) […]

But not everyone considers ataluren to be a miracle drug—with good reason. The clinical trial results haven’t been great. Most of the company’s studies tested how fast a child could go about 30 feet or walk up and down stairs, or how far they could walk in six minutes. They did see some slight positive results, many of which came from a study done with the specific kind of patient the company discovered benefited most in a previous trial. […]

“If the evidence isn’t good, then insurance companies won’t pay for [drugs],” said National Center for Health Research (NCHR) president Diana Zuckerman. Two recently approved drugs have run into this problem: Spinraza, a drug for spinal muscular atrophy, and Exondys 51. Both drugs cost hundreds of thousands of dollars a year. Pharmaceutical companies traditionally will not discuss prices before drugs are approved; that said, ataluren costs about £220,000 in Britain. During clinical trials, participants like the Vertins normally do not pay for the treatment.

The NCHR also presented at the FDA meeting in September to discuss ataluren, urging the agency to not approve the drug without more research. The organization’s statement also raised concerns about side effects associated with the drug, specifically about the chance that it raises blood pressure and cholesterol levels in children. The company says these shifts are small and “not clinically significant.” […]

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