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Ben Bumgarner stared at his phone, sleepily playing a video game. He wasn’t staying up too late as 14-year-olds sometimes do. On this particular day he, his parents and his service dog, Divina, had gotten up before the sun and made their way to the Children’s Pavilion for what they hope to be a game-changing medical treatment. Ben had been waiting years. This familiar distraction was helping him pass the final hours until his big moment.
On November 21, 2024, Ben was the first CHoR patient to receive ELEVIDYS, a novel gene transfer therapy for Duchenne muscular dystrophy, or DMD, that recently underwent expanded FDA approval. DMD, a rare genetic muscle disease almost exclusively affecting people assigned male at birth, is caused by lack of a protein called dystrophin and characterized by degenerating muscles and becoming progressively weaker over time. Most boys with DMD lose the ability to walk between 8 and 12 years of age, with loss of arm strength and breathing difficulties following in their teen years.
Prior to Dr. Amy Harper’s arrival at CHoR in 2016, the Bumgarners had been traveling to a children’s hospital several states away for the specialized care Ben needed. With Dr. Harper’s expertise, they were able to get the best care practices within minutes of their Richmond area home. As a pediatric neuromuscular neurologist and researcher, Dr. Harper had her finger on the pulse of the ELEVIDYS studies and trials – but Ben was losing mobility as he, his parents and Dr. Harper anxiously awaited news of its availability.
“The drug, given as a one-time infusion, is designed to stimulate the muscles to begin making a mini form of dystrophin called micro-dystrophin, giving back a smaller version of the protein that’s missing with DMD,” explained Dr. Harper.
“We’ve been talking about this infusion for a while,” said Ben’s mom, Beth. “We thought it would get [FDA] approval a year and a half ago, but that was for a narrow age range.”
The medicine was initially approved for patients 4 through 5 years of age in 2023. It subsequently received FDA approval for individuals 4 and older with DMD with a confirmed mutation in the DMD gene on June 20, 2024. Ben’s turn had finally come, almost.
ELEVIDYS comes at a steep cost, but the difference the Bumgarners and other families hope it will make is invaluable. Insurance approval was the next step, which happened relatively quickly thanks to the legwork Ben’s parents and care team had done in advance. With this piece in place, Ben just wanted to finish his marching band season – he plays marimba in the pit – before the infusion, not knowing for sure how it would impact him.
“With one gene infusion, we’re able to give this partial protein back to Ben to slow his course of DMD and hopefully maintain his best motor function. It will also help strengthen his breathing muscles and improve his long-term quality of life,” said Dr. Harper.
Ben, who already takes daily steroids to treat his disease, began an even higher dose regimen before his gene therapy to reduce the risks associated with the immune response to the ELEVIDYS. While an important step, it also compromised his ability to fight off illnesses. So, he hunkered down at home, receiving homebound school instruction and halting most social and extracurricular activities. Mom and Dad were – and continue to be – extremely cautious as well to keep the home a healthy space for Ben.
“His grandparents sent an email to all their friends requesting Lego sets to keep Ben busy and entertained,” said his mom, Beth.
His biggest creation has been a 2,000-piece Bowser.
“We use a virus that serves like a car, called a vector, and we modify it so it doesn’t make you sick, but it carries a shortened form of the dystrophin gene to the muscle cells. Once that mini gene is incorporated into the muscle cells, it will then begin to produce micro-dystrophin protein, partially replacing the dystrophin that’s missing because of the genetic condition, or the Duchenne’s gene,” explained Dr. Harper.
On infusion day, our pharmacy team thawed the medication according to protocol and Dr. Harper ensured Ben was healthy – no fever, cold symptoms, etc. Once these tasks were complete and Ben’s video game battles had been won, the infusion began. The 3-hour process concluded around 1:30 p.m. and Ben and Divina snuggled on the bed for a few more hours while the team kept close watch for any adverse reactions. When they arrived that morning, the Bumgarners expected to be home by dinnertime.
“They were definitely home by dinnertime and Ben did amazing with the infusion,” said Donna Palmer, assistant clinical manager in the infusion clinic.
ELEVYDIS isn’t a cure for DMD, but it definitely puts the brakes on to slow progression.
According to the FDA’s press release announcing its approval of the drug, “…the FDA considered the totality of the evidence, including the potential risks associated with the product, the life-threatening and debilitating nature of the disease and the urgent unmet medical need.”
“He’s experienced a lot of disease progression in the last year,” said Beth, of her son’s course with DMD. “The goal is to pause this progression and let him keep the mobility he has.”
Ben will follow-up with frequent clinic appointments and lab testing with Dr. Harper. She’ll monitor him closely to make sure there are no complications from the gene infusion and that he’s beginning to make his new protein. He’ll keep doing his schoolwork from home through the end of January, spending his free time reading his favorite Wings of Fire book series, playing video games, and admiring Bowser with Divina.
Once his immune system ramps back up and his extra steroids are weaning, he’ll get back to school, friends, power soccer and perfecting his acting in plays – with renewed hope for what the future holds.
“This is very exciting because it’s improving life and longevity for these boys and expanding the number of young adult men surviving with DMD,” added Dr. Harper. “I am confident this cutting edge treatment is the first of many gene therapies we’re going to bring to our muscular dystrophy patients.”
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