On Monday, Charley turned 13 years old. Birthdays cause emotional turmoil for all Duchenne parents I know. We’re deeply grateful for every single day with our children in a way that most people thankfully are just not aware. We’re also deeply sad that each day of being older means a day of lost muscle function and a day closer to Duchenne’s inevitable, universal outcome. Every single child with Duchenne is subject to the inevitable decline and ultimate death sentence.
Children with DMD do not produce dystrophin, a protein necessary for muscle strength and function. Lack of dsytrophin leads to loss of ambulation, which leads to loss of upper body function, which leads to cardiac and/or pulmonary failure. Every single time.
As you can imagine, scientists have been working for decades to figure out how to get the body to produce dystrophin. Now we finally have a drug that does just that – produces the missing protein. What’s more, the 12 boys who have been lucky enough to try this drug in a clinical trial have stabilized since the dystrophin was produced in their muscle cells. We know that in these 12 boys at least, we can produce dystrophin – dystrophin that works.
Recently Sarepta, the company developing this drug, announced that the FDA does not encourage submission of a New Drug Application (NDA) at this time. This is a direct turnaround from the FDA’s position just three months ago, when, according to Sarepta, they told the company they would accept an NDA.
The FDA’s change of position was most likely influenced by the recent failure of a different drug produced by GSK; Drisapersen. Like Eteplirsen, Drisapersen is also designed to produce dystrophin, but a large clinical trial of Drispaersen did not result in stabilization in their sample. The FDA said those results call into question whether dystrophin production will lead to clinical benefit. But here’s the thing: No one knows if the kids in the failed Drisapersen trial were producing dystrophin, and if they were how much of it was found in the muscle fibers.
If we are to compare competitive products, the recent failure of Drispaersen should buttress Sarepta’s case, not hurt it. Drispaersen was close to what our children need, but not quite right. Due to toxicity issues, the drug could not be dosed at high enough levels to have across-the-board efficacy. In contrast, Sarepta’s drug has a stellar safety profile. In two years, not one drug-related adverse event has been reported.
Tell the FDA to consider a New Drug Application for Eteplirsen before it's too late. Children will die and children will lose their ability to walk if this decision continues to be postponed.
For more information about the drug and this research, and to send a quick email to the FDA yourself, please see: http://www.charleysfund.org/blog/need-your-help-please-in-honor-of-charleys-birthday/
I do not have a rare fatal disease, but if I had one I would want the freedom to choose a drug in consultation with my physician that has a highly favorable safety profile and early indications of efficacy. I believe the FDA’s #1 job is to protect people. While we understand there are certain risks with approving a medication studied in only 12 patients, the risk is a minimal and tolerable one compared to the certain pediatric deaths and losses of ambulation that will occur if you require several more years of study before approving this drug.
Please, I implore you, work with Sarepta to accept the creative and aggressive confirmatory trial design they have planned. Understand that boys will die and boys will lose their ability to walk if this decision continues to be postponed.