WASHINGTON, Feb. 10, 2014 — Health staffers from over 80 Congressional offices together with agency and industry officials jammed a briefing room last Friday to hear mothers, clinicians and leading researchers call on the FDA to accept and promptly review a new drug application for eteplirsen, a promising new treatment for Duchenne Muscular Dystrophy that could save thousands of lives. Sponsored by Rep. William Keating (D-MA-9th), and Rep. Spencer Bachus (R-AL-6), the briefing featured three of seven leading scientists who briefed the FDA the previous day, and previewed an upcoming documentary on the lives of the children who suffer from Duchenne.
Duchenne is the leading genetic killer of children, affecting about one out of every 3,500 boys born in the United States. With no approved treatment, Duchenne has a 100 percent fatality rate. A child of five faced with Duchenne experiences a loss of muscle strength that leads to confinement to a wheelchair by adolescence and a shortened life assisted by ventilators. The progressive deterioration of muscle strength leads to death in the late teens or early twenties.
“Our children are facing the most common fatal childhood disorder in the world,” said Christine McSherry. “There is no cure for my son Jett, but there is a therapy that could save his life.”
In 2012 Congress granted the FDA special authority to accelerate approval of treatments that demonstrate real promise in mid-phase trials for diseases like DMD that are rare and fatal. Pointing to the FDA’s power to accelerate therapy approval, Mindy Leffler whose son Aidan suffers from Duchenne introduced the expert panel representing decades in Duchenne research and clinical trials. Noted Leffler, “The drug’s effect in the 12 boys in the trial is obvious and extraordinary. We were concerned that the FDA might be uncomfortable listening to us as parents, so we brought the world’s leading experts in the treatment and research of Duchenne to them.”
Dr. Jerry Mendell, the principal investigator for the breakthrough drug eteplirsen, with the most clinical trials through three decades of clinical research declared, “This drug works.”
Also briefing was Harvard Medical School Professor, Dr. Louis Kunkel, the leading authority who discovered in 1986 that Duchenne was caused by a “dystrophin” deficiency. Kunkel described the boys receiving the new therapy by saying, “They are stabilized. They are making dystrophin. This is really quite an amazing feat.” “I support this,” he stated.
Australian Professor Steve Wilton, a neuromuscular NIH funded researcher and one of the world’s pioneers of “exon skipping” gene therapy, described eteplirsen’s promise, “In Australia we’d say it’s bleeding obvious.”
Summarizing the case before the FDA, Dr. Mendell said, “Clearly it’s a breakthrough drug, it has minimal side-effects. I say minimal, we haven’t seen a single one, which is incredibly remarkable, and we unequivocally showed efficacy over a two year period which is unheard of in clinical trials. If you add up all these things, that is the ticket for accelerated approval by the FDA, and we need help getting there.”
The scientists saw a decisive decade for Duchenne research and the parents saw a pivotal moment, where a FDA decision could determine whether their children are part of the last generation to die from Duchenne, or among the first generation to live.
Tracy Seckler, mother of 13 year-old Charley with Duchenne, summarized by saying, “You’ve just heard from the world’s experts who are are fulfilling their responsibility as outspoken advocates for kids with Duchenne. They traveled here from Boston, Columbus and Perth because in all their collective 95 years of experience, they have never seen clinical trial results like this.” In closing, Tracy realized the implications for Charley and the other children, “We face two timelines to FDA approval, one accelerated, which will give children this drug by end of this year, or the business as usual timeline, with full phase three trials, meaning no access to this drug until 2018. That’s four years that children like Jett do not have.”
Jenn McNary, with two sons, Austin 15 and Max 12, one of whom has benefited from the eteplirsen trial noted, “We live with the science every day in our home. We are not so much in a race against the science as we are in a race against the clock. Will the FDA approve this in time for the families sitting in this room?”