A Registered Cohort Study on FSHD1

Ning Wang, MD., PhD.

Status: Enrolling

Conditions: Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)

Study type: Observational

Funder types: Other

Identifiers

NCT04369209

MRCTA,ECFAH of FMU [2020]026

Details and patient eligibility

About

The data to be collected is intended to help healthcare providers make important medical and financial decisions concerning FSHD1, through an enhanced understanding of the prevalence, progression and natural history of FSHD1.

Full description

The China FSHD1 patient registry is a nationwide, population-based, non-interventional, observational cohort clinical study of all age groups of genetically-confirmed FSHD1 patients from families (with at least 1 affected member), collecting data retrospectively at study entry and prospectively during follow up. The data to be collected is intended to help healthcare providers make important medical and financial decisions concerning FSHD1, through an enhanced understanding of the prevalence, progression and natural history of FSHD1.

Enrollment: 1,000 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Male or female subjects of all ages at baseline
• Subjects, with or without symptoms, with FSHD1 genetic confirmation through PFGE-based Southern blotting
• Unrelated healthy controls

Exclusion criteria

• Decline to participate
• Other neuromuscular disease (such as Limb-girdle muscular dystrophy or Myotonic dystrophy)
• Serious systemic illness (such as heart, liver, kidney disease or major mental illness)

Trial design