Time running short, mom lobbies FDA for drug to save son's life

BELLEVUE -- It sounds like a miracle drug. Boys who are slowly dying from a form of Muscular Dystrophy get on a new medicine and make a remarkable turnaround, with no side effects.

So why won't the Food and Drug Administration let a 10-year-old Bellevue boy take it?

Aidan Leffler is a fifth grader at Phantom Lake Elementary School. While other kids are watching the clock count down to recess, Aidan might be a little less anxious. Aidan isn't going to recess today - or any day. He has Duchenne Muscular Dystrophy. The disease strikes young boys, keeping their bodies from producing a protein that repairs and builds muscle after exercise. Instead, Aidan's muscles break down as he uses them. He can't play sports, ride a bike or even run.

"Sometimes I'll put my foot down but it won't be there so I kind of trip and my leg kind of collapses. And other times I just get sore in that place," Aidan described.

There is no cure for Duchenne, and the disease progression is well documented. "It's really predictable what will happen to him," said Mindy Leffler, Aidan's mother. "First, they lose the ability to go up stairs. He's also losing the ability to get off the floor by himself, and then he'll lose the ability to walk."

Next, boys with Duchenne lose the use of their arms. Eventually, their lungs and heart will fail. Treatment often includes the use of steroids to keep boys functioning as long as possible, but no one survives. Life expectancy is into a young man's 20's.

But 12 young boys might be rewriting what we know about Duchenne Dystrophy. They are the first to take a new drug called eteplirsen.

Max McNary of Virginia has been taking eteplirsen for nearly two and a half years. His mother now posts celebratory videos of Max walking, running and playing baseball with neighborhood kids.

Process to get drug 'way too slow'

The drug doesn't help Duchenne boys regain function already lost. But it does keep them from deteriorating. And none of the families has reported any side effects.

Max's brother also has Duchenne, and he is already in a wheelchair, following the normal track of muscle loss. Their mother Jennifer McNary hopes to get her other son on eteplirsen.

Aidan's doctor would like to write a prescription for eteplirsen too, but there's one thing standing in the way: the FDA.

"It's a slow process," said Dr. Sue Apkon of Seattle Children's Hospital. "Way too slow for our kids and families who are wanting access to this drug. Way too slow for providers like me who are watching boys who would potentially benefit from this drug, who are losing function."

Duchenne 'dream team' lobbies FDA for drug approval

The FDA is reviewing eteplirsen but calls the status "confidential information," noting that "the FDA has reached no conclusions" about the drug. Advocates are asking the FDA to grant accelerated approval under a 2012 law aimed at getting life saving drugs to market quickly.

Drug maker Sarepta recently presented data from the 120 week trial with McNary and 11 other boys. Dr. Apkon was one of the physicians at the conference.

"There was a striking response from the audience," she said. "These are boys who over time we would have expected to stop walking. And 120 weeks after starting this medicine, these boys are still walking, and not only are they still walking, they're walking the same distance for the same period of time."

Mindy Leffler, two other mothers of Duchenne patients as well as doctors and researchers recently met with an FDA panel, lobbying for eteplirsen's approval.

"I brought basically the dream team of Duchenne to the FDA. Names that we all, in the Duchenne community, consider rock stars," Mindy said. "And every single one of them was there because they believe in the efficacy of this drug. So it's not really me as a parent saying I've seen the science and it's impressive. It's literally the world's top minds in Duchenne saying the same thing."

'Nothing has happened'

That was nearly two months ago, and the family still hasn't had a response.

"Nothing has happened," Mindy said. "Not a single boy in the world has gained access to this drug. And I've had my heart broken however many times over the last couple years as the FDA says yes, no, back and forth. I don't think I could survive being optimistic one more time."

Dr. Apkon was one of the doctors who testified. In addition to Aidan, she has several other local patients she believes would be more stable on eteplirsen.

"That's something to celebrate. This is a disease where boys lose their abilities. It is a progressive, degenerative disease. So stabilization in our world is exciting," Dr. Apkon said.

In addition to corresponding with the FDA, families launched a petition drive. They reached their goal of 100,000 signatures and are now awaiting a response. As they wait, the Leffler family has seen a marked change in Aidan, who will likely need a wheelchair soon.

"I think he's probably good for a year, I would guess?" Mindy said. "But the drug takes six months to take effect. So we're running out of time. I keep telling myself, if I can just get it in his body by the time he's 11, then maybe he'll have a shot."