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Milestone transplant surgery saves teen
Breakthrough treatment brings hope to children with Duchenne muscular dystrophy
Going on a family bike ride is a typical outing for an active 7-year-old boy. But, for Karson Blanchard, this was a treasured experience his parents feared he would never have.
Karson was diagnosed with Duchenne muscular dystrophy at 20 months of age. His parents grieved the limits he likely faced growing up. They accepted that he would eventually need a wheelchair. As he grew, they watched his movements slow and his body weaken. The brand-new bicycle they hoped he would one day enjoy was hidden away in the back of the garage.
Duchenne is a devastating genetic illness that causes progressive muscular wasting. Affecting primarily males, the disease causes life-threatening heart and respiratory problems as it advances. “Patients usually lose the ability to walk in their early teens and generally succumb to the illness before age 30,” says Dr. Crystal Proud, Karson’s pediatric neurologist at CHKD.
For years, Dr. Proud, who specializes in neuromuscular conditions, could only treat her patients’ symptoms. “When I chose to go into this field, I really expected to be more of a hospice-type doctor,” says Dr. Proud. “I thought I’d be guiding my patients through a journey that would someday come to an end. My goal was to provide them with support and peace through that process.”
But fiercely committed to research to find new treatments, Dr. Proud led CHKD to become one of four centers in the nation selected to study a medication called Elevidys. This therapy now offers real hope to the muscular dystrophy community.
The FDA approved Elevidys on June 22, 2023, for patients ages 4 and 5. At that time, Karson’s sixth birthday was rapidly approaching on August 25. Dr. Proud and her team from the Novel Therapeutics and Gene Therapy Program at CHKD had a very short window to coordinate the reams of paperwork, pre-treatment testing, family education, and logistics required for him to receive Elevidys before the cutoff date.
On the morning of August 23, two days shy of his sixth birthday, Karson became the first patient in Virginia to receive this innovative new treatment.
Elevidys is a gene therapy, given in a single intravenous dose, that spurs the development of a protein similar to the protein missing in the muscle cells of children with Duchenne. Physicians are optimistic about its potential to slow the progression of the disease.
“When Karson came back to our clinic, we noticed that he was rising from the floor more easily, running down the hall faster. His mother tearfully shared some of the things that he was doing that he’d never been able to do before,” says Dr. Proud. “It is a wonderful gift to offer my patients hope and provide optimism to families. The future is no longer a well-defined pathway with a clear ending. We now have open paths and unknowns with these revolutionary therapies, and I think these are just the beginning.”
Mere months after Karson received Elevidys, his parents were able to pull his bike out of the garage and take him for that long-awaited ride. They are now filled with hope that many more activities they once thought were lost will become simple, joyful memories of his childhood.
FDA Expands Access to Elevidys
A year after approving Elevidys for patients ages 4 and 5, in June of 2024, the FDA expanded access to this breakthrough gene therapy to all patients over the age of 4. This expansion marks a significant milestone, allowing the majority of boys and men living with Duchenne to benefit from this option. At CHKD, nearly 30 patients have been treated with this therapy. They are walking longer, breathing better, and having fewer complications and hospitalizations. “It’s hard to put into words what a difference gene therapy has made for these patients and their families,” says Dr. Crystal Proud, chief of neurology at CHKD. “We look forward to the opportunity to help many more."
