A new study published in Neurology and Therapy provides important insights into what matters to families of children with Duchenne muscular dystrophy (DMD) one year after administration of the gene therapy delandistrogene moxeparvovec (Elevidys).
Researchers spoke with 23 parents of boys aged 4 to 7 who completed the first year of EMBARK, a large, global Phase 3 clinical trial testing whether Elevidys can slow or stabilize disease progression. The therapy delivers a shortened version of the dystrophin gene to help muscles function better.
What is dystrophin?
Dystrophin is the protein that mutates and leads to DMD. It is found in small quantities in muscle cells, where its role is to protect the cell from daily damage.
When it mutates, it causes muscle cell degeneration and inflammation, leading to damage in the tissue of the bones, lungs and heart.
The study did not meet its primary endpoint at the end of Part 1. But researchers wanted to understand what changes caregivers noticed and what they considered meaningful in a condition where gradual loss of function is expected.
Before treatment, most parents said their sons struggled with movements like running, climbing stairs or jumping. When asked what would count as improvement, nearly all said that staying stable would itself be a major positive.
One parent in the study said: “Yes, because I think staying stable with the progressive disease is still something positive.”
Learn more about DMD prognosis
When asked about observed changes after one year, the results showed that 70% of parents whose child received Elevidys reported “very much” or “much” improvement in at least one area of physical ability, compared with 38% of parents in the placebo group. The most common improvements were running faster, climbing stairs more easily and better balance or jumping.
The authors concluded that despite limitations like a small sample size, caregiver-reported experiences provide valuable, subjective context to the quantitative outcomes from the EMBARK trial.
They emphasized that in DMD, maintaining function or achieving even modest improvement is meaningful to families, and that qualitative data complements traditional clinical endpoints.
“These findings underscore the importance of maintaining stability or achieving minimal improvements in treatment outcomes for patients with DMD,” they wrote. “Parental experiences and perceptions provided additional insight beyond clinical outcome assessment measures, offering a complementary subjective perspective on treatment impact.”
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