The second Duchenne muscular dystrophy patient in the world to receive a newly Food and Drug Administration-approved gene therapy got it right here at Akron Children’s Hospital. The life-altering Elevidys that now-6-year-old Massillon resident Vinny DeMando received in August has shown amazingly promising trial results to improve mobility, strength and endurance for patients with the rare progressive genetic neuromuscular disease with no cure.
“This is the biggest breakthrough we’ve ever had,” says Dr. Kathryn Mosher, an Akron Children’s pediatric physiatrist.
Since Vinny was 11 months old, he was behind on crawling on all fours then walking and was falling often. By 3 years old, he struggled to get up off the floor and a physical therapist referred him to Mosher, who did genetic testing and confirmed he has Duchenne. It’s caused by mutations in the dystrophin gene, which results in the absence of the dystrophin protein that’s a shock absorber for muscle movement. Duchenne leads to progressive muscle weakness, the loss of the ability to walk by about age 12 and complications including cardiac and pulmonary issues, learning disabilities, respiratory failure and early death.
The news was devastating to his mom, Jill DeMando, who became a Parent Project Muscular Dystrophy connect coordinator. She learned about Elevidys while it was in clinical trials. When it was approved by the FDA, Akron Children’s secured the one-dose $3.2 million therapy. DeMando, a new Synchrony Financial employee, emailed the CEO of the billion-plus company, and miraculously got full insurance approval between it and United Healthcare. Vinny was the right candidate because he was 5 years old (it was just nine days before his sixth birthday), didn’t have certain genetic exclusions and didn’t have antibodies to the nonharmful AAVrh74 virus used to deliver microdystrophin to the cell through an infusion.
“They use the capsule of the virus. They take out the genetic material the virus has and replace it with microdystrophin,” Mosher says. “The virus can enter into the cell and deliver the microdystrophin gene.”
Then the body starts producing a version of dystrophin. It’s not a cure, but it aims to make the disease milder. The results, which typically take at least several months to appear, can be astounding.
“After the treatment, they saw a significant increase in the presence of dystrophin in the muscles, which is very exciting,” Mosher says.
“They started seeing them keep up with their siblings, running, ascending stairs without an issue,” DeMando says.
Vinny got Elevidys on DeMando’s birthday, and she couldn’t have asked for a better present than this cutting-edge treatment that could change his life.
“We’re hoping that this will start to rewrite the history of Duchenne muscular dystrophy,” says Mosher.
