Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

• Published in: PloS one Vol. 8; no. 12; p. e81302
• Main Authors: Finkel, Richard S., Flanigan, Kevin M., Wong, Brenda, Bönnemann, Carsten, Sampson, Jacinda, Sweeney, H. Lee, Reha, Allen, Northcutt, Valerie J., Elfring, Gary, Barth, Jay, Peltz, Stuart W.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 11.12.2013; Public Library of Science (PLoS)
• Subjects: Analysis; Biopsy; Child; Clinical trials; Codon, Nonsense - genetics; Codons; Drug dosages; Drug therapy; Duchenne muscular dystrophy; Duchenne's muscular dystrophy; Dystrophin; Dystrophin - metabolism; Dystrophy; Genetic aspects; Hospitals; Humans; Kinases; Male; Medicine; mRNA; Muscles; Muscular dystrophy; Muscular Dystrophy, Duchenne - drug therapy; Muscular Dystrophy, Duchenne - metabolism; Mutation; Nonsense mutation; Oxadiazoles - therapeutic use; Proteins; Qualitative analysis; Quantitative analysis; Rodents; Spectrin; Stop codon; Utrophin; New York; Ohio; United States > US; New Jersey; Utah; Pennsylvania

Approximately 13% of boys with Duchenne muscular dystrophy (DMD) have a nonsense mutation in the dystrophin gene, resulting in a premature stop codon in the corresponding mRNA and failure to generate a functional protein. Ataluren (PTC124) enables ribosomal readthrough of premature stop codons, lead...