First Approved Gene Therapy for Muscular Dystrophy Brings Hope to Kids Everywhere

What is Duchenne Muscular Dystrophy: bit.ly/3JjsrFJ
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A groundbreaking gene therapy developed at Nationwide Children’s Hospital to treat the most common form of muscular dystrophy has been approved by the FDA, bringing hope to thousands diagnosed with this devastating and life-threatening disease. Duchenne muscular dystrophy, or DMD, mostly affects boys. Symptoms begin with muscle weakness and mobility issues in childhood and progress to cardiovascular and respiratory issues in early adulthood.
“In those with DMD, genetic mutations prevent cells from making dystrophin, a protein responsible for developing and maintaining healthy muscle tissue. And although symptoms are first seen in skeletal muscles, it is also what causes heart and breathing issues as the disease advances,” said Jerry Mendell, MD, pediatric neurologist and principal investigator in the Center for Gene Therapy at Nationwide Children’s Hospital. “Gene therapy corrects this defect to allow the body to produce dystrophin and prevent further deterioration of muscle tissue.”
In a clinical trial, a single gene therapy infusion was administered to boys with DMD. Connor Stoll was the first patient to receive the therapy at age 5, and five years after his infusion, he has had little to no regression. His parents noticed that things like climbing stairs and getting up off the floor - activities that those with DMD struggle with as they grow - have come easier for Connor.
“Connor’s 11 now, and usually boys with DMD have significant muscle weakness by this age. But we’ve been able to watch him continue to do all the things he loves, like play with his friends at recess and play baseball with his little brother,” said Connor’s mom, Kathryn Edison. “Instead of saying, ‘I can’t,’ or wanting to sit out of activities, Connor has the confidence to try new things and to be more independent.”
Easton Reed was also among the first participants in the clinical trial, and his parents observed similar improvements.
“We weren’t quite sure what to expect after the gene therapy infusion, but about a week later we started to notice he was better able to keep up with his siblings when they were playing. Probably the most remarkable thing was he’d start just cruising up the stairs, and that’s something we had never seen him do before,” said Easton’s mom, Cassie Reed. “This therapy gave Easton his childhood back and let him be a little boy.”
The success of boys like Connor and Easton offers hope for a healthier future and longer life for thousands of others with DMD who may benefit from this new gene therapy. As doctors learn more about the long-term effects and benefits of the gene therapy, supplemental treatments for those with DMD are in development to slow disease progression and improve mobility.