This morning more than 100 legislative aides packed a briefing room in the halls of Congress to hear about Duchenne and a new drug called Eteplirsen. Three of the world’s leading experts described the clinical trial results for this medicine as “remarkable.” They confirmed that this drug is safe. They confirmed that it is effectively producing dystrophin, the protein boys with Duchenne are missing. They stated that the clinical performance of the 12 boys in the trial is not what they would expect at all based on their many years of experience treating thousands of patients.
“This drug deserves accelerated approval,” said Dr. Jerry Mendell of Nationwide Children’s Hospital, the physician/researcher who has run more clinical trials for this disease than any doctor in the world. “All the boys are producing dystrophin. They should be declining and they are not. This is really quite a feat,” said Dr. Louis Kunkel of Harvard University, the man who discovered the dystrophin gene in 1987. “It’s bleeding obvious,” stated Dr. Steve Wilton of the University of Western Australia, who has been researching Duchenne and exon skipping for 25 years.
My words hold little weight compared to these esteemed experts. I can only speak as a parent, but I hope that my comments – along with the statements of fellow Duchenne moms Mindy Schneider Leffler, Christine McSherry and Jenn McNary, helped congressional aides understand the urgency of our situation. This is what I said:
I’m Tracy Seckler and my son Charley has Duchenne. You have just heard from three of the world’s top experts that Eteplirsen is safe and effectively produces the protein that boys with Duchenne are missing. I just want to take a moment to reiterate the caliber of these experts, and the weight of their collective experience and accomplishments in the field of Duchenne. Their faces don’t look familiar to you, but in our world these guys are rock stars. Together Drs. Mendell, Kunkel and Wilton have been studying this disease and treating patients for a collective 95 years. They have written more papers, conducted more clinical trials, and treated more children than any doctors worldwide. They have travelled here from Boston, Columbus and Perth not out of sympathy, not because they feel bad for us parents but because in all their years of working on Duchenne, they have never seen results like this in a clinical trial.
I want to lay out two timelines so you can understand what happens if the FDA acts as authorized and uses the Accelerated Approval approach, and the consequences if the FDA fails to do so.
If FDA grants Accelerated Approval, Eteplirsen will be available by the end of the year. 13% of boys with Duchenne can benefit from this drug. My son is not in that group, but the company plans to develop additional new medicines very similar to Eteplirsen once the regulatory path for this first drug is clear. If FDA grants accelerated approval for Eteplirsen, the other drugs will get underway quickly and treatments will be developed for 85% of boys with Duchenne within the next several years. My son will live.
If FDA requires business as usual — a full phase 3 trial — it means no access to this therapy until 2018. That’s a 4-year delay for the kids who can benefit from this drug. Four years is too late to save Jett’s life. Four years is too late to keep Aidan out of a permanent wheelchair. Four years is too late for every boy when the data we already have show that the drug is safe and effective. And it will be a decade or more before my own son sees a treatment. My son will likely die.
If a traditional phase 3 trial is required, it means boys in the placebo arm will lose muscle function permanently while we watch them decline in the name of science. It means the children in the trial would have to undergo muscle biopsies to measure dystrophin production. Biopsies are painful, invasive surgical procedures requiring general anesthesia. And they take muscle tissue, the very thing these boys cannot afford to lose. And those are the “lucky” ones in the trial. For all the boys not in the trial, it means helplessly waiting years for corroborative results while losing the ability to climb up and down stairs, to walk, to hug, to breathe.
This business as usual path means certain loss of function and inevitable death for many boys — because this disease is progressive and it is 100% fatal.
Here is a therapy that is safe and effective and a prime candidate for Accelerated Approval. Eteplirsen could be made available this year to all eligible children while the scientists and regulators continue to monitor patients to ensure the drug is safe and working. We are not asking for special treatment or to bend the rules. How does Eteplirsen measure up against other drugs that have received Accelerated Approval? It meets and even exceeds the bar. We are asking FDA officials to follow the law. And we are asking them to do it now. One of the slides Dr. Mendell showed you demonstrates that after 48 weeks on Eteplirsen, treated patients fared better than boys on placebo. That was in October 2012. Since then, patient advocates have met with the FDA six times.
Our kids are missing dystrophin, which is a tragedy. But our government is missing the opportunity to change that, which is a travesty — a travesty of justice that you can help change.
Click here to read my friend Christine McSherry’s extremely moving comments from this morning’s briefing.