A Registered Cohort Study on FSHD1

Study Overview
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Brief Summary
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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
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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.

Official Title
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A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1

Conditions
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Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)

Participation Criteria
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Eligibility Criteria
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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)
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| PFGE-based Southern blotting | Genetic test of PFGE-based Southern blotting were performed for these clinical suspected FSHD1 patients on the basis of the family as a whole. Eligible participants were genetically confirmed patients who presented a contraction to 1-10 D4Z4 repeats with a 4qA-specific FSHD1-permissive haplotype. | 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 | The FSHD Clinical Score was used to define numerically the clinical severity of facioscapulohumeral muscular dystrophy (FSHD), which was divided into six independent sections that assess the strength and the functionality of (I) facial muscles (scored from 0 to 2); (II) scapular girdle muscles (scored from 0 to 3); (III) upper limb muscles (scored from 0 to 2); (IV) distal leg muscles (scored from 0 to 2); (V) pelvic girdle muscles (scored from 0 to 5); and (VI) abdominal muscles (scored from 0 to 1). | 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

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| The modified Medical Research Council (MRC) scale | The modified Medical Research Council (MRC) scale was used to assess numerically the muscle strength of FSHD participants. Firstly, muscles were tested bilaterally (when applicable) in standardized positions with manual muscle testing (MMT) scores. Then, MMT scores were converted to calculable data of the modified MRC scale. | 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) | The 2016 Comprehensive Clinical Evaluation Form (CCEF) for FSHD was used to classify phenotypes: category A , typical penetrant patients with both facial and upper limb muscle weakness (subcategories A1: severe facial weakness; A2, moderate facial weakness; A3: only upper or lower facial weakness); category B, atypical penetrant patients (subcategories B1, muscle weakness limited to scapular girdle; B2, muscle weakness limited to facial); category C, asymtomatic (subcategories C1) or nonpennetrant (subcategories C2) patients; and category D, subjects with myopathic phenotype not consistent with FSHD canonical phenotype. | 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 |