Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)
Conditions
Brief summary
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.
Interventions
None listed
Sponsors
Ning Wang, MD., PhD.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| PFGE-based Southern blotting | 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 | 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. |
| The FSHD Clinical Score | 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 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). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| The modified Medical Research Council (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 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. |
| The Comprehensive Clinical Evaluation Form (CCEF) | 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 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. |
Countries
China
Contacts
Primary ContactNing Wang
Outcome results
None listed