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- Title
Increase in Full-Length Dystrophin by Exon Skipping in Duchenne Muscular Dystrophy Patients with Single Exon Duplications: An Open-label Study.
- Authors
Nicolau, Stefan; Malhotra, Jyoti; Kaler, Maryann; Magistrado-Coxen, Pamela; Iammarino, Megan A.; Reash, Natalie F.; Frair, Emma C.; Wijeratne, Saranga; Kelly, Benjamin J.; White, Peter; Lowes, Linda P.; Waldrop, Megan A.; Flanigan, Kevin M.
- Abstract
Single exon duplications account for disease in a minority of Duchenne muscular dystrophy patients. Exon skipping in these patients has the potential to be highly therapeutic through restoration of full-length dystrophin expression. We conducted a 48-week open label study of casimersen and golodirsen in 3 subjects with an exon 45 or 53 duplication. Two subjects (aged 18 and 23 years) were non-ambulatory at baseline. Upper limb, pulmonary, and cardiac function appeared stable in the 2 subjects in whom they could be evaluated. Dystrophin expression increased from 0.94 % ±0.59% (mean±SD) of normal to 5.1% ±2.9% by western blot. Percent dystrophin positive fibers also rose from 14% ±17% at baseline to 50% ±42%. Our results provide initial evidence that the use of exon-skipping drugs may increase dystrophin levels in patients with single-exon duplications.
- Publication
Journal of Neuromuscular Diseases, 2024, Vol 11, Issue 3, p679
- ISSN
2214-3599
- Publication type
Article
- DOI
10.3233/JND-230107