Moms, Regulators, Biotech Startups, and the Battle Over a Potentially Life-Saving Drug

Photograph by Ryan PflugerLeffler's son Aidan was diagnosed with Duchenne in 2006

The 2014 World Cup elevated soccer to the top of Aidan Lefflers roster of obsessions, rivaled only by endangered big catsespecially jaguars, the coolestand Star Wars spaceships. In recognition of his new interest, hes set up a miniature soccer field with 4-foot-wide goals in his backyard in suburban Bellevue, Wash. Watch this! he shouts, preparing to fire a penaltykick.

Small for his age, Aidan, 11, moves awkwardly, shoulders high and hunched. He uses a lightweight plastic beach ball, not a regulation leather soccer ball. He begins his approach, pulls back his right foot, andcollapses to the grass.

Mitch Leffler, the sole spectator, moves toward his son. Im OK, Aidan says. I can do it. He struggles onto his hands and knees, raises his butt, places his hands one at a time on his thighs, and slowly pushes himself into an upright position. My leg just wasnt there, he says matter-of-factly. His father nods, and the game resumes.

Aidan has Duchenne, the deadliest strain of muscular dystrophy. Its inherited maternally on the X chromosome and mostly afflicts boys. Parents typically sense something is wrong when their sons at 3 or 4 dont run around or they start falling for no obvious reason. Beginning in the legs, Duchenne destroys muscle, which is replaced by fat and scar tissue. Victims lose the ability to walk by adolescence. Eventually the disease causes cardiac and/or respiratory complications that lead to death by the mid-20s. One in 3,500 newborns has Duchenne, which translates to around 15,000 cases in the U.S. Theres no cure.

Aidan doesnt really understand yet, his mother, Mindy, says, but its basically a slow-motion death sentence.

Theres reason to hopenot for a miracle, but for a reprieve. Three small biotech companies are competing to develop drugs designed to address the cellular defects that cause some cases of Duchenne. If proven safe and effective, the drugs would turn Duchenne into a less devastating form of muscular dystrophy. Clinical trials, however, have yielded uneven results, and the U.S. Food and Drug Administration has made equivocal pronouncements about which of the drugs, if any, have a shot at approval. Even a marginally effective drug would likely command an astronomical price, making the winning company a billion-dollar sensation.

The hunt for a Duchenne treatment has generated a collision of commerce, cutting-edge science, and Wall Street speculation. The FDA, though, seems flummoxed over how to evaluate the experimental drugs, especially given a lack of large, clearly successful randomized studies. Thats left the Lefflers confused and increasingly desperate.

Photograph by Ryan PflugerMcSherry with her son, Jett, who began college this fall

Mindy believes that one experimental treatmenteteplirsen, made by a company called Sarepta Therapeutics (SRPT)has shown sufficient promise in a tiny trial to warrant wider availability. If approved, eteplirsen might help 13percent of Duchenne boys who have certain genetic flaws. Mindys son is among the 13percent. I want Aidan on that drug, she says, and I want it to happen before hes in a wheelchair or worse.

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Moms, Regulators, Biotech Startups, and the Battle Over a Potentially Life-Saving Drug