A Registered Cohort Study on FSHD1

NCT04369209 | Recruiting

• 1 other identifier: MRCTA,ECFAH of FMU [2020]026
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

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.

Conditions

Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (2)

• 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 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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Ning Wang, MD., PhD.: lead

Study Sites (1)

First Affiliated Hospital of Fujian Medical University

Fuzhou, Fujian, 350005, China

RECRUITING

Central Study Contacts

Ning Wang

CONTACT

13805015340; ningwang@fjmu.edu.cn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: April 26, 2020
• First Posted: April 30, 2020
• Study Start: January 1, 2001
• Primary Completion (Estimated): December 1, 2031
• Study Completion (Estimated): December 1, 2031
• Last Updated: August 26, 2024

Record last verified: 2024-08

Locations

CN (1)