A Long-Term Observational Study of Duchenne Muscular Dystrophy to Understand Its Clinical Course and Improve Care

What this Trial Is About

Dystrophinopathy refers to a group of X-linked recessive genetic disorders, including Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and X-linked dilated cardiomyopathy. This research aims to understand the clinical characteristics and natural progression of dystrophinopathy by studying patients over time in multiple centers. The goal is to assess clinical and genetic aspects to improve patient care and management. This observational study follows a registered cohort of individuals diagnosed with Duchenne Muscular Dystrophy, including female carriers confirmed by genetic testing or muscle biopsy if genetic confirmation is unavailable. The study does not involve experimental treatments but focuses on collecting detailed clinical and genetic information to observe disease progression. Participants will be monitored over an extended period, with researchers tracking outcomes such as age at death by 20 years. The study involves regular clinical evaluations to gather data on the clinical spectrum and progression of the disease. Long-term follow-up helps optimize management strategies and provides valuable insights into dystrophinopathy.

A Registered Cohort Study on Duchenne Muscular Dystrophy