Gene therapy with bidridistrogene xeboparvovec for limb-girdle muscular dystrophy type 2E/R4: phase 1/2 trial results.

ABSTRACT: Limb-girdle muscular dystrophy 2E/R4 is caused by mutations in the β-sarcoglycan (SGCB) gene, leading to SGCB deficiency and consequent muscle loss. We developed a gene therapy approach based on functional replacement of the deficient SCB protein. Here we report interim results from a first-in-human, open-label, nonrandomized, phase 1/2 trial evaluating the safety and efficacy of bidridistrogene xeboparvovec, an adeno-associated virus-based gene therapy containing a codon-optimized, full-length human SGCB transgene. Patients aged 4-15 years with confirmed SGCB mutations at both alleles received one intravenous infusion of either 1.85 × 10¹³ vector genome copies kg^-1 (Cohort 1, n = 3) or 7.41 × 10¹³ vector gene copies kg^-1 (Cohort 2, n 

SUBMITTER: Mendell JR 

PROVIDER: S-EPMC10803256 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature