Update on Treatment of Dystrophinopathy

Abstract Purpose of Review Dystrophinopathy is a spectrum of X-linked disorders caused by mutations in the DMD gene, leading to absent or decreased dystrophin protein. This group of conditions includes Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), as well as others such as DMD -associated dilated cardiomyopathy (DCM) and cramps with myoglobinuria. This review provides an overview of the clinical presentation, diagnostic approach, and management of dystrophinopathy, with an emphasis on recent therapeutic advances. Recent Findings Recent years have seen an acceleration in the development of promising gene-targeted approaches, such as gene transfer of microdystrophins and a new generation of exon-skipping RNA-based therapies. The recent US Food and Drug Administration (FDA) approval of treatments like vamorolone, givinostat, and delandistrogene moxeparvovec highlights the progress in the field. Other potential therapies are currently in clinical trials. Despite these advances, the backbone of treatment remains a comprehensive multidisciplinary approach, supported by treatments that have been established as standard of care. Newborn screening pilots can assist with early identification and intervention for males affected by dystrophinopathy. Summary Emerging therapies hold promise for altering the course of dystrophinopathy. Ongoing research will continue to refine genetic therapies and explore alternative therapeutic mechanisms. Ultimately, early diagnosis resulting in the integration of novel treatments with established multidisciplinary approaches offers the clearest path forward for improving outcomes in dystrophinopathy.