PPMO-based exon skipping therapy improves respiratory function in the <i>mdx</i> mouse model of Duchenne muscular dystrophy.

ABSTRACT: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disorder caused by a deficiency of dystrophin, leading to progressive muscle degeneration and eventually cardiorespiratory failure. Exon-skipping therapies using cell-penetrating peptide-conjugated phosphorodiamidate morpholino oligomers (PPMOs) restore production of a shortened but functional dystrophin protein. Since respiratory insufficiency is the leading cause of morbidity and mortality in DMD, we sought to examine the impact of PPMO on respiratory pathology. We evaluated the effects of RC-1001, a PPMO targeting a dystrophin mutation, in mdx mice, a preclinical model of DMD. These mice received monthly intravenous doses of RC-1001 (30, 50, or 100 mg/kg), starting at 2 months of age, and were monitored until the st

SUBMITTER: Biswas DD 

PROVIDER: S-EPMC12809079 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature