Pediatric Neurosciences Brings Families Latest Advances in Neuromuscular Care
UT Health Austin pediatric neurologists offer a groundbreaking treatment for children with Duchenne muscular dystrophy
Reviewed by: Vettaikorumakankav “Veda” Vedanarayanan, MD, FRCPC, and James Johnson, BSN, RN, CPN
Written by: Lauren Schneider
A newly approved treatment may improve health outcomes for children diagnosed with Duchenne muscular dystrophy (DMD), a rare genetic condition linked to progressive mobility issues, respiratory challenges, and cardiac complications.
In 2024, the U.S. Food and Drug Administration (FDA) expanded approval of Elevydis (delandistrogene moxeparvovec-rokl), a gene therapy now available to patients age four and older who can walk, with case-by-case consideration for those who cannot.
The therapy is currently available through UT Health Austin Pediatric Neurosciences at Dell Children’s, a clinical partnership between UT Health Austin and Dell Children’s Medical Center.
“Duchenne muscular dystrophy is one of the most common inherited muscular disorders,” says Vettaikorumakankav “Veda” Vedanarayanan, MD, FRCPC, board-certified pediatric neurologist in the Pediatric Neuromuscular Disease Center within UT Health Austin Pediatric Neurosciences at Dell Children’s. “The new treatment could help these patients live longer with less severe symptoms.”
The Next Generation of Preventive Therapy
Historically, DMD was associated with significantly shortened life expectancy. Treatment typically focused on symptom management— physical therapy and mobility devices to support daily functioning. In the 1980s, clinicians began prescribing steroids to slow muscle degeneration, but these medications didn’t directly alter the course of the disease.
By the early 2000s, treatment approaches shifted to modifying disease progression by promoting the production of dystrophin, a protein that strengthens the membranes of muscle fibers. People with DMD lack functional dystrophin due to a genetic mutation.
“Without dystrophin, the muscle membrane lacks strength as it stretches and contracts, which causes the muscle tissue to degenerate over time,” explains Dr. Vedanarayanan.
One early approach to increasing dystrophin production was exon skipping therapy, which alters messenger RNA to bypass faulty sections of the dystrophin gene and enable partial protein production.
Elevydis represents a new phase of dystrophin-targeted treatment. “Patients receive a version of the dystrophin gene that’s been packaged into a viral vector, which delivers the DNA into the cell’s nucleus,” says Dr. Vedanarayanan.
Importantly, the therapy does not alter a patient’s existing DNA. “The DNA fragment is not integrated into the patient’s genetic code, so it does not disturb other genes,” he adds.
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A Safety-First Approach to Treatment
While long-term outcomes are still being studied, research shows that Elevydis successfully increases dystrophin production in muscle cells. Based on these findings, the FDA has approved the therapy for eligible DMD patients.
Before receiving gene therapy, patients undergo genetic testing to identify any risk factors that could lead to complications. For example, patients missing exons 8 and 9 from the dystrophin gene should not receive Elevydis.
Pre-treatment testing also checks for antibodies that might attack the viral vector carrying the new dystrophin gene, potentially reducing the therapy’s effectiveness.
Patients who qualify begin with a course of immunosuppressive medication, typically steroids, to reduce the immune system’s response. During this time, the gene therapy is ordered and shipped to the care team administering the treatment.
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Elevydis is given via intravenous (IV) infusion, and patients are typically observed overnight in the hospital. The infusion and immediate recovery are closely monitored to reduce the risk of complications such as fever, body aches, or nausea.
For the first 12 weeks after treatment, patients return for weekly follow-up visits to monitor heart and liver function and assess for immune reactions. If no adverse effects are observed, patients can transition to a less frequent follow-up schedule to track the progression of their DMD symptoms.
“Patients may not regain lost muscular function, but research indicates that DMD progression is slower in children who receive the therapy compared to those who do not,” notes Dr. Vedanarayanan.
Advancing the Future of Pediatric Neuromuscular Care
Elevydis is just one of several recent breakthroughs in the treatment of DMD.
Duvyzat (givinostat), an anti-inflammatory medication taken twice daily, helps reduce scarring in muscle tissue and is an option for children who may not qualify for gene therapy. Another new treatment, Agamree (vamorolone), is a corticosteroid alternative associated with fewer side effects than traditional steroid therapies.
“New treatments are constantly being discovered,” says Dr. Vedanarayanan. “The outlook for patients with DMD will continue to get better and better.”
For more information about UT Health Austin Pediatric Neurosciences at Dell Children’s, visit here.