The latest developments in synthetic approaches to Duchenne muscular dystrophy.

Abstract

Introduction: Duchenne muscular dystrophy (DMD) is a rare X-linked genetic disorder caused by mutations in the dystrophin gene, leading to an almost complete absence of dystrophin, which is essential for muscle cell structure and function. This resulting muscle deterioration and fibrosis, eventually causes respiratory failure and cardiomyopathy. While there is currently no cure, existing therapies aim to prolong survival and alleviate symptoms.

Areas covered: This paper reviews current and emerging therapies for DMD, focusing on their safety and efficacy. Although corticosteroids remain the standard treatment, newly approved drugs such as exon-skipping therapies, vamorolone, delandistrogene moxeparvovec, and givinostat provide new treatment options. Additionally, future therapies, including gene therapy, stem cell treatments, and anti-fibrotic agents, show promise for clinical application.

Expert opinion: Advancements in DMD treatments have expanded patient options. While gene therapy offers potential for correcting the genetic defect and alleviating symptoms, corticosteroids remain the most cost-effective and well-researched treatment. This is partly due to the lack of compelling long-term safety and efficacy data for gene therapies. The accelerated FDA review process has enabled faster approval of new medications; however many have provided minimal clinical benefit to patients. Despite these challenges, continued drug development and innovative research offer hope to patients.