Advances in the pharmacotherapeutic management of duchenne muscular dystrophy: an update

Duchenne muscular dystrophy (DMD) is a severe X-linked disorder caused by mutations in the dystrophin gene, resulting in progressive skeletal muscle degeneration, loss of ambulation, and eventual cardiopulmonary failure. Although survival has improved, DMD remains incurable and associated with substantial morbidity and premature mortality.

A comprehensive literature search was conducted to examine current and prospective pharmacotherapeutics for the treatment of DMD. This review summarizes FDA-approved therapies for DMD, emphasizing mechanisms of action, clinical efficacy, and safety. Corticosteroids remain the standard of care, with newer agents, such as vamorolone offering alternative safety profiles. Mutation-specific exon-skipping therapies and adeno-associated virus-mediated microdystrophin gene transfer have expanded treatment options but show variable functional benefit and safety concerns. The recent approval of the histone deacetylase inhibitor givinostat is also discussed. Emerging strategies include next-generation gene editing, utrophin upregulation, and diverse cell-based therapies, alongside evolving approaches to cardiac management.

Recent therapeutic expansion has been driven in part by accelerated regulatory pathways relying on surrogate endpoints. While these advances provide important access, long-term efficacy, and safety data remain limited. Future progress will likely require rigorous clinical outcomes and rational combination of multimodal treatment strategies.