Inside Out

By October 1, 2015November 27th, 2018Tracy's Blog

In the Pixar movie Inside Out, we get inside the brain of a girl named Riley and see her emotions come to life on the screen. Sadness and Joy battle each other for dominance, and eventually realize that they must coexist. This morning, after listening to Sarepta’s data update on eteplirsen, I feel like Riley and I have a lot in common.

As I watched the presentation given by Dr. Ed Kaye, Sarepta’s interim CEO, my first feeling out of the gates was joy. Dr. Kaye explained that children who have been taking the drug for 192 weeks – almost four years – continue to fare much better on walking than matched controls from natural history studies. Their hearts and lungs remain stable, contrary to what we would expect from an untreated population of the same age. Importantly, these clinical benefits are explained by an underlying biological drug response: their bodies are clearly producing dystrophin, the protein missing in kids with Duchenne.

As the data sank in, sadness crept up to temper my joy. The data presented today confirm what many of us in the scientific and patient community understood more than two years ago: eteplirsen is a safe and effective treatment for a disease that is rapidly progressive and 100% fatal. Yet to this day, the drug is still only available to the limited number of patients who are lucky enough to be included in clinical trials. And because the company has had to spend virtually all of its resources building a stronger case for eteplirsen — which can only help 13% of kids with Duchenne — limited progress has been made on similar drugs that can help the rest of the Duchenne population, including my son Charley.

While joy and sadness jockeyed in my brain this morning, another emotion made its presence known: gratitude. When Dr. Kaye showed the unequivocal results of the fourth biopsy, I was reminded yet again that the children in the eteplirsen study have been subjected to four invasive muscle biopsies to help prove the presence of dystrophin. Four separate times they were put under general anesthesia, they were cut open, and they gave up a piece of precious muscle tissue. Those boys and their families have sacrificed an inordinate amount to help the FDA understand that this drug should be approved, and I am deeply grateful to them for taking on this additional burden when their lives are already extremely difficult.

Gratitude piped up again during the conference call when Duchenne experts from around the world spoke up to say we cannot wait any longer.

Expert #1: “I don’t see how you can deny boys treatment with this agent.”

Expert #2: “As a clinician, trying to address the question on whether we can wait…two years in untreated children could make the difference between ambulation and not.”

Expert #3: “I certainly absolutely agree.”

Expert #4: “Withholding this drug is morally wrong.”

Sarepta has produced consistently positive data on eteplirsen over a long period of time. The drug has a stellar safety profile and strong endorsement from respected physicians who treat our children. Yet families affected by Duchenne are still waiting. We’re waiting to find out when the FDA will convene an independent panel to review this drug and recommend whether it should be approved. And then we will wait another three months for a final decision.

In Inside Out, two emotions play supporting roles: Anger and Disgust. Riley doesn’t let those two get much playing time, as she’s a strong and positive girl. But I’m in danger of ceding to them a leading role. In June 2013, the first time the FDA said they would accept a New Drug Application for eteplirsen, my son could climb a flight of stairs. Delay after delay has ensued, and now, more than two years later, Charley has lost that ability. We have lost too much time. Children with Duchenne deserve this drug now, and we should move full speed ahead with the follow-on exon skipping drugs to treat children with different genetic mutations.

Of course this is real life, so this story will not conclude with a Disney-style happy ending. But it’s not too late to make things right so bittersweet doesn’t turn to bitter. It’s past the time to accept the data, heed the experts, and listen to the patients. Approve this drug now and give our boys a chance.