When 5-year-old Vinny DeMando left Akron Children’s on Aug. 4, he left with a newly FDA-approved gene therapy making its way through his body.
His parents left with hope and gratitude for a brighter, healthier future for him.
Vincent (Vinny), of Massillon, was diagnosed in July 2021 with Duchenne muscular dystrophy (DMD), a rare and progressive genetic neuromuscular disease. Predominantly affecting males, Duchenne is linked to the X chromosome and caused by mutations in the dystrophin gene. The mutations result in an absence of functional dystrophin protein, which acts as a shock absorber when muscles move. The absence of dystrophin leads to progressive muscle weakness and life-threatening complications, including cardiomyopathy, respiratory failure and, ultimately, premature death.
As difficult as that diagnosis was to hear, Vinny and his family now have the good fortune of him meeting the criteria to receive one of the very first doses of ELEVIDYS, a gene therapy from Sarepta Therapeutics that addresses the underlying cause of Duchenne, since it was approved for use by the FDA in June.
“Right now Vinny does not produce any dystrophin,” said his mom, Jill, “so even producing the smallest amount is really beneficial for his heart and lungs.”
Jill and Michael have an older daughter, Eliana, and noticed developmental delays in Vinny in his first few months.
“I know you are not supposed to compare your children,” said Jill, “and initially, they weren’t big differences.”
But, beginning around 11 months of age, they noticed Vinny was missing milestones like crawling on all fours, walking late and, by age 4, not jumping like the other kids around him. After a referral to Akron Children’s, an assessment from pediatric physiatrist Dr. Kathryn Mosher and a genetics test, the diagnosis was confirmed.
Dr. Mosher recognized Vinny could be one of the first candidates for the newly-approved therapy. About three weeks prior to the infusion, a multi-disciplinary team at Akron Children’s was essential to making it happen, beginning with the first step – confirming that the patient’s health insurer and his mother’s employer would pay for the $3.2 million one-dose therapy.
The team, led by pharmacy director John Lepto, including physicians, nurses, pharmacists, and staff from billing, managed care and social work, worked to ensure everything would be ready, including training on how the medicine, which must be shipped and stored at precise temperatures, would be received and administered.
“It’s exciting to be part of that,” said Lepto, who has also been involved in getting other “orphan” or rare and expensive new drugs to Akron Children’s patients over the past 3 years. “We know how much it means for these patients.”
Ohio has been a leader in the fight against DMD with clinical trials set here, and the state recent adding DMD to its newborn screening, effective 2024.
Jill is active in Parent Project Muscular Dystrophy, a network of parents who are working to accelerate research for DMD and advocate for optimal care and access to approved therapies for all families affected.
Vinny’s infusion on Friday was yet another career highlight for Dr. Mosher, who has been thrilled to witness the advancements in therapies to help children with DMD.
“Today is a historic moment in the battle against Duchenne muscular dystrophy,” said Dr. Mosher. “While ELEVIDYS is not a cure, it is the biggest advance in treatment we have seen. I am so proud of the team at Akron Children’s who came together to make this moment happen. I am truly blessed to work among such amazing colleagues.”
Dr. Mosher added that this moment belongs to the community of families living with DMD.
“We hope for a day when we can offer this treatment to a wider range of patients,” she said, “and we look forward to a day when our patients are not always living in the shadow of this terrible disease.”
While ELEVIDYS has been approved for just one use and it is unclear now if the benefits will last 5 years, 20 years or longer, Vinny’s parents are putting their faith in the science.
“I have talked to several mothers throughout the U.S. who had children in the clinical trial and every single one of them told me that, after about six months, the change was phenomenal. Their kids could run, climb stairs, jump and keep up with other kids,” Jill said. “It’s pretty amazing, and we are pretty excited to see Vinny do those things too.”