Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)
Study 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.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
Accepted
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)
Primary outcome measure(s)
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).
Trial sites (1)
Facility
City
Region
Status
First Affiliated Hospital of Fujian Medical University
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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