A Registered Cohort Study on FSHD1
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorNing Wang, MD., PhD.
About this trial
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
This trial accepts healthy volunteersQualifiers
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
Disqualifiers
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)
Trial 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.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
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.
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 years2
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).
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 yearsSecondary outcomes
1
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.
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 years2
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.
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 yearsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Ning Wang, MD., PhD.
Lead sponsor
First Affiliated Hospital of Fujian Medical University
Sponsor institution
Source ClinicalTrials.gov