DMD Practical Course 08. Advanced Therapies in DMD: Gene Therapy and Exon Skipping

Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder caused by pathogenic variants in the DMD gene, leading to the absence or near absence of functional dystrophin. Recent advances in molecular medicine have transformed the therapeutic landscape of DMD, with innovative approaches aimed at restoring dystrophin expression and modifying disease progression. This course provides a practical overview of the genetic and molecular foundations underlying DMD and reviews the current status of advanced therapeutic strategies, including gene therapy and exon skipping. Participants will explore the principles of microdystrophin gene transfer using adeno-associated viral vectors, the rationale and mechanisms of antisense oligonucleotide therapies, and the challenges associated with treatment delivery, immune responses, and clinical efficacy. Through practical examples and clinical scenarios, the course also examines the current evidence, regulatory status, and future perspectives of these emerging therapies in DMD.