Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It primarily affects boys, as it is linked to mutations in the dystrophin gene located on the X chromosome. In DMD, the absence or dysfunction of dystrophin, a protein that helps maintain the integrity of muscle cell membranes, leads to muscle fiber damage and eventual muscle weakness that affects the skeletal muscle and the bulbar function. Currently, there is no cure for DMD, but various treatments, including physical therapy, medications, and assistive devices, can help manage symptoms and improve quality of life.
Delandistrogene moxeparvoveck-rokl is an rAAVrh74 vector-based gene transfer therapy that delivers a transgene encoding delandistrogene moxeparvoveck-rokl micro-dystrophin. This is the first and only commercially available gene transfer therapy for patients with genetically confirmed DMD, to stabilize or slow DMD disease progression
Initial FDA approval was in June 2023 with a limited label for ambulatory 4-5-year-old boys with DMS. Most recently, in June 2024, the label was expanded to include all patients above 4 years of age who are ambulatory or non-ambulatory.
Neurology & Neuromuscular Care Center (NNCC) is a private, non-profit neuromuscular clinic in Denton, TX. NNCC opened its doors in January 2023 and is the first Cure Duchenne clinic in the country, currently caring for 175 patients with dystrophinopathies, of those 21 Becker Muscular Dystrophy (BMD).
We were the first site in Texas to treat a patient with Delandistrogene moxeparvoveck-rokl; until now, 15 patients have been treated. This presentation will describe our real-world experience, including demographic information, genotype, phenotype, motor function testing, laboratory, imaging and safety data after the therapy.