A Patient Perspective on Gene Therapy for Neuromuscular Diseases: Justin Moy

WATCH TIME: 5 minutes

"Going forward, how can we generalize gene therapy to many other diseases. MDA has many muscular dystrophies under its portfolio, and for some of them, like my own, are limited. There are still no treatments. Can we use new gene therapy technology to alleviate those muscular dystrophies as well?"

In June 2023, the FDA approved SRP-9001 (Elevidys; Sarepta Therapeutics), otherwise known as delandistrogene moxeparvovec, as a AAV vector-based gene therapy for ambulatory patients with Duchenne muscular dystrophy (DMD) with a confirmed mutation in the DMD gene.¹ The approved therapy is contraindicated for patients with any deletion in exon 8 and/or exon 9 in the DMD gene. As the first gene therapy approved for DMD, findings from the supporting data demonstrated the potential of gene therapy, and the promise it may have for other muscular dystrophies.

Following the Keynote Address at the 2024 Muscular Dystrophy Association (MDA) Clinical and Scientific Conference, held March 3-6, in Orlando, Florida, participants in a panel discussed neuromuscular diseases in the age of therapy. The panel, made up of experts in precision medicine, patient advocacy, healthcare systems, and future perspectives, dived into essential aspects of treatment in the field. This discussion aimed to promote a comprehensive understanding of the current challenges, breakthroughs, and collaborative efforts in shaping the landscape of neuromuscular care.

Panel participant Justin Moy, a patient with LAMA2 congenital muscular dystrophy (CMD) and second-year PhD student in bioinformatics at Boston University, sat down with NeurologyLive® at the conference to discuss how the size of the dystrophin gene can impact gene therapy in the landscape of care for DMD. He also spoke about the role of biomarker discoveries in advancing gene therapy for other neuromuscular diseases such as congenital muscular dystrophies (CMDs). In addition, Moy talked about how patient involvement and education can help with contributing to the success of gene therapy treatments for this patient population in neuromuscular medicine.

REFERENCES
1. Sarepta Therapeutics announces FDA approval of Elevidys, the first gene therapy to treat Duchenne muscular dystrophy. News release. June 22, 2023. Accessed March 25, 2025. https://www.businesswire.com/news/home/20230622454844/en/