UK Patient Registry for Facioscapulohumeral Muscular Dystrophy to Collect Health Data and Support Research

What this Trial Is About

Facioscapulohumeral Dystrophy FSHD is a common type of neuromuscular dystrophy affecting about one in 20,000 people, including around 3,000 in the UK. This research aims to better understand FSHD in the UK by collecting detailed patient information through a registry. The registry helps identify individuals who may be eligible for future clinical trials and supports questionnaire-based studies to characterize the disease. Participants with a confirmed or pending diagnosis of FSHD living in the UK can join the registry. Parents or guardians may register children under 16 years old. After consenting, participants enter their information on the registry platform and are invited to update it annually. Healthcare providers involved in their care may also contribute clinical or genetic data with consent. During participation, individuals complete various questionnaires each year, including assessments of pain, quality of life, and physical function. The registry collects data through patient self-report and optional clinician input, with ongoing updates. This observational study helps researchers gather valuable insights into FSHD progression and patient experiences over time.

The United Kingdom Facioscapulohumeral Muscular Dystrophy Patient Registry