New gene therapy for Duchenne muscular dystrophy gives 8-year-old a chance to ride horses and play baseball
Before Colton Belluzzo turned 7 years old, his mobility started declining fast. It became nearly impossible for him to get up from the floor by himself. His balance made him avoid climbing the stairs in his family’s home near Grand Rapids, Minnesota. It was also getting more difficult for his parents, Dan and Morgan, to lift their growing son.
Colton has Duchenne muscular dystrophy (DMD), a rare condition that weakens skeletal and heart muscles in about 1 in 3,500 to 5,000 boys worldwide.
“We live on a farm, so for him to walk around outside in the pasture or anywhere it was wet and muddy was nearly impossible because of difficulty with balance,” Morgan said. “Uneven ground was his nemesis.”
On December 18, 2024, Colton became the first patient in the M Health Fairview health system to receive a new gene therapy for DMD. The one-time infusion, called Elevidys, could give him a chance at his dreams of playing baseball and riding horses. He also loves riding his four-wheeler and sledding behind the snowmobile. M Health Fairview is among the first health systems in the world offering this gene therapy to treat DMD.
Potentially life-changing treatment.
A mutation in the dystrophin gene causes DMD, the most common type of muscular dystrophy of childhood. The mutation prevents the body from making the protein dystrophin that protects muscle from excessive injury and allows it to work properly.
“Typically, after age 6 or 7, muscle strength and motor function skills begin to decline,” said Colton’s doctor, Peter Karachunski, MD, a pediatric neurologist with M Health Fairview Pediatrics and an associate professor with the University of Minnesota Medical School. "By that time, many would exhibit increased fatigue and muscle cramps and pains and can experience falls.”
Without treatment, muscle strength and movement would continue to decline rapidly until the patient can no longer walk. Muscle loss can lead to respiratory and cardiac complications. The majority people with DMD die in their 20s or 30s.
Most kids are diagnosed around age 5, but Colton was diagnosed at M Health Fairview Masonic Children’s Hospital before he was a year old. A blood test for an unrelated illness showed high levels of the enzyme creatine kinase, a sign of muscular dystrophy.
Colton’s early diagnosis allowed him to start getting treatment to manage his symptoms at a young age, which might have slowed the progression of his disease. But Colton's family hoped the gene therapy medication Elevidys, which Colton received when he was 7 would be a game changer.
The one-time infusion that takes about four hours gave Colton’s cells a functional copy of the dystrophin gene. The hope is that his body will reproduce the functional gene and create the protein his muscles need to prevent injury, improve muscle function and slow progression of the disease.
Elevidys is not a cure for DMD, and long-term effectiveness is still being studied. With any gene therapy, there are potential risks and side effects, including immune reactions to the therapy.
“At this point of the game it is the only treatment available to Colton,” Morgan said. “We had seen the research. We had seen boys who have been treated, so we've seen the evidence. We also know there's a chance that it might not work but there's a chance that it will. And we know the progression of the disease. We know what will eventually happen if we do nothing.”
