Clinical trial NCT04369209: A Registered Cohort Study on FSHD1
Official title: A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)
Lead sponsor: First Affiliated Hospital of Fujian Medical University
Sponsor class: OTHER
First posted: 2020-04-30
Enrollment: 1000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All genetically-confirmed FSHD1 patients from families (with at least 1 affected member) in China, irrespective of age. These FSHD1 patients presented at least one contracted D4Z4 repeats with 4qA-specific FSHD1-permissive haplotype, the diagnosis of which was performed at Fujian Neuromedical Center (FNMC), the clinical genetic test hospital for FSHD1 in China to employ PFGE-based Southern blotting.

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.

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)

Primary outcomes:
measure: PFGE-based Southern blotting
timeFrame: 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
measure: The FSHD Clinical Score
timeFrame: 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 outcomes:
measure: The modified Medical Research Council (MRC) scale
timeFrame: 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
measure: The Comprehensive Clinical Evaluation Form (CCEF)
timeFrame: 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
Other outcomes:
Locations:
city: Fuzhou
country: China
facility: First Affiliated Hospital of Fujian Medical University
state: Fujian
Study officials:
References: