A Registered Cohort Study on FSHD1
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1). Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- China
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1
Overview
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.
Detailed 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.
Primary outcome measures
- PFGE-based Southern blotting [Time frame: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years]
- The FSHD Clinical Score [Time frame: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years]
Secondary outcome measures (2)
- The modified Medical Research Council (MRC) scale [Time frame: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years]
- The Comprehensive Clinical Evaluation Form (CCEF) [Time frame: From date of randomization until the date of first documented progression or date of death from any cause, whichever came first, assessed up to 20 years]
Eligibility criteria
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)
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
China · 1 center
- First Affiliated Hospital of Fujian Medical University — Fuzhou
Publications
- Lin X, He Q, Zeng M, Lin Y, Xu X, Chen X, Lin X, Wang Z. Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study. PeerJ. 2026 Apr 2;14:e21043. doi: 10.7717/peerj.21043. eCollection 2026. PMID 41943824
Identifiers
NCT: NCT04369209 · MRCTA,ECFAH of FMU [2020]026