A Registered Cohort Study on FSHD1

• ClinicalTrials.gov Identifier: NCT04369209
• Recruitment Status: Recruiting
• First Posted: April 30, 2020
• Last Update Posted: January 20, 2022
• Sponsor: Ning Wang, MD., PhD.
• Information provided by (Responsible Party): Ning Wang, MD., PhD., First Affiliated Hospital of Fujian Medical University

Tracking Information

• First Submitted Date: April 26, 2020
• First Posted Date: April 30, 2020
• Last Update Posted Date: January 20, 2022
• Actual Study Start Date: January 2001
• Estimated Primary Completion Date: December 2031 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: September 20, 2021)

• PFGE-based Southern blotting [ 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 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 [ 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 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).

Original Primary Outcome Measures (submitted: April 28, 2020)

The FSHD Clinical Score [ 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 30 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).

Current Secondary Outcome Measures (submitted: September 20, 2021)

• The modified Medical Research Council (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 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) [ 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 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.

Original Secondary Outcome Measures (submitted: April 28, 2020)

• The modified Medical Research Council (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 30 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) [ 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 30 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.

• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: A Registered Cohort Study on FSHD1
• Official Title: A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 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.
• 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.
• Study Type: Observational
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• 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.
• Condition: Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)
• Intervention: Not Provided
• Study Groups/Cohorts: Not Provided
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: September 20, 2021): 1000
• Original Estimated Enrollment (submitted: April 28, 2020): 500
• Estimated Study Completion Date: December 2031
• Estimated Primary Completion Date: December 2031 (Final data collection date for primary outcome measure)

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)

Sex/Gender

• Sexes Eligible for Study: All

• Ages: Child, Adult, Older Adult
• Accepts Healthy Volunteers: Yes

Contacts

Contact: Ning Wang; 13805015340 ext 13805015340; ningwang@fjmu.edu.cn

• Listed Location Countries: China

Administrative Information

• NCT Number: NCT04369209
• Other Study ID Numbers: MRCTA,ECFAH of FMU [2020]026
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Current Responsible Party: Ning Wang, MD., PhD., First Affiliated Hospital of Fujian Medical University
• Original Responsible Party: Same as current
• Current Study Sponsor: Ning Wang, MD., PhD.
• Original Study Sponsor: Same as current
• Collaborators: Not Provided
• Investigators: Not Provided
• PRS Account: First Affiliated Hospital of Fujian Medical University
• Verification Date: January 2022