FDA approves Duchenne Muscular Dystrophy treatment following clinical trial at URMC

ROCHESTER, N.Y. — On Thursday, the FDA approved the first gene therapy for Duchenne Muscular Dystrophy (DMD) and it did it based in part on research that was conducted right here in Rochester.

A number of young boys with DMD participated in phase three of the clinical trial at URMC for a therapy called Elevidys. 

Elevidys was grated accelerated approval for pediatric patients aged four and five with DMD. One of the families who participated in the trial says since their son’s infusion in January they’ve seen remarkable progress. 

Charlie Prior was diagnosed with DMD at age three. DMD almost exclusively impacts boys and in the past, most have lost the ability to walk by the time they become teenagers. 

That’s why Charlie’s parents were eager to join the Elevidys trial. Dr. Emma Ciafaloni has been leading it at URMC.

“This has been in the making for a very long time,” she previously explained to News10NBC. “And so that’s the exciting part of this is really trying to replace the broken gene and make the proteins that are missing — unlike other treatments that we have that are more like may be symptomatic treatments.”

Charlie had an infusion in January that his mom believes was the treatment.

“About eight weeks later, he was able to fully dress himself independently, put on his own shoes, I saw him hop on a swing and just start swinging, jumping and even now he’s able to jump in a pool — which is awesome. Oh, and he is snapping his fingers,” Cheryl Prior tells News10NBC. 

Charlie can do little things that he hasn’t been able to do in the past. His family was optimistic the therapy could work, but not nearly as much as it did.

“We weren’t really even expecting to see improvement in his mobility, we were blown away that we saw what we’re seeing now and I don’t really know what to expect (moving forward). The oldest child who received the drug isn’t very old so, it’s hard to know exactly what will happen moving forward,” Chery says.

For right now though, the family is grateful for the improvements Charlie has seen and felt, and thankful that other families will soon get the opportunity to try the treatment. 

The clinical trials will continue on the treatment as the maker of Elevidys works toward full approval for kids up to 7-years-old.