Duchenne Muscular Dystrophy: Contemporary Therapeutic Options and Real-World Challenges in Treatment Selection

Area of Science:

• Neurology
• Genetics
• Pharmacology

Background:

• Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder.
• Characterized by progressive muscle degeneration, motor decline, and organ compromise.
• Diagnosis in early childhood involves motor delays, elevated creatine kinase, and genetic testing.

Purpose of the Study:

• To provide a clinically oriented overview of FDA-approved DMD medications.
• To emphasize corticosteroids, exon-skipping therapies, readthrough agents, and gene therapy.
• To summarize mechanisms, efficacy, safety, regulatory status, and integration challenges.

Main Methods:

• Review of current Food and Drug Administration (FDA)-approved medications for DMD.
• Emphasis on corticosteroids, exon-skipping therapies, nonsense mutation readthrough agents, and gene therapy.
• Inclusion of ongoing gene therapy trials and clinical vignettes for real-world context.

Main Results:

• The therapeutic landscape for DMD has evolved significantly.
• Current treatments include corticosteroids, mutation-specific therapies, and gene replacement strategies.
• No therapy fully restores dystrophin or halts disease progression.

Conclusions:

• Despite advances, comprehensive management of DMD remains complex.
• Integrating multifaceted therapies requires careful consideration of efficacy, safety, and patient-specific needs.
• Shared decision-making and longitudinal care planning are crucial for optimizing patient outcomes.