Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies.

ABSTRACT: OBJECTIVE:To investigate the efficacy of N-acetylcysteine (NAC) for decreasing elevated oxidative stress and increasing physical endurance in individuals with ryanodine receptor 1-related myopathies (RYR1-RM). METHODS:In this 6-month natural history assessment (n = 37) followed by a randomized, double-blinded, placebo-controlled trial, 33 eligible participants were block-randomized (1:1) to receive NAC (n = 16) or placebo (n = 17), orally for 6 months (adult dose 2,700 mg/d; pediatric dose 30 mg/kg/d). The primary endpoint was urine 15-F2t isoprostane concentration and the clinically meaningful co-primary endpoint was 6-minute walk test (6MWT) distance. RESULTS:When compared to the general population, participants had elevated baseline 15-F2t isoprostane concentrations and most had a decre

SUBMITTER: Todd JJ 

PROVIDER: S-EPMC7274912 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature