An Observational Study of Patients and Healthy Controls with Facioscapulohumeral Muscular Dystrophy Type 1 FSHD1 Across All Ages in China

What this Trial Is About

This observational study focuses on individuals of all ages with genetically confirmed Facioscapulohumeral Muscular Dystrophy Type 1 FSHD1, including those with or without symptoms, as well as unrelated healthy controls. The goal is to better understand the prevalence, progression, and natural history of FSHD1 to aid healthcare providers in making informed medical and financial decisions. Participants are enrolled in a nationwide registry where data is collected retrospectively at entry and prospectively during follow-up. This non-interventional cohort study does not involve treatment but monitors participants over time to observe disease progression using genetic confirmation methods and clinical evaluations. Participants provide data that includes clinical scoring and muscle strength assessments, tracked from the time of enrollment until documented disease progression or death, with follow-up lasting up to 20 years. Researchers use tools such as PFGE-based Southern blotting, the FSHD Clinical Score, the modified Medical Research Council scale, and the Comprehensive Clinical Evaluation Form to measure outcomes and understand disease impact over time.

A Registered Cohort Study on FSHD1