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A Registered Cohort Study on FSHD1

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ClinicalTrials.gov Identifier: NCT04369209
Recruitment Status : Recruiting
First Posted : April 30, 2020
Last Update Posted : September 24, 2021
Sponsor:
Information provided by (Responsible Party):
Ning Wang, MD., PhD., First Affiliated Hospital of Fujian Medical University

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.

Condition or disease
Facioscapulohumeral Muscular Dystrophy Type 1 (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.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1
Actual Study Start Date : January 2001
Estimated Primary Completion Date : December 2021
Estimated Study Completion Date : December 2021





Primary Outcome Measures :
  1. 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.

  2. 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).


Secondary Outcome Measures :
  1. 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.

  2. 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.



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.
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)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04369209


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

Locations
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China, Fujian
First Affiliated Hospital of Fujian Medical University Recruiting
Fuzhou, Fujian, China, 350005
Contact: Zhiqiang Wang    08659187982772 ext 08659187982772    fmuwzq@fjmu.edu.cn   
Sub-Investigator: Zhiqiang Wang         
Sponsors and Collaborators
Ning Wang, MD., PhD.
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Responsible Party: Ning Wang, MD., PhD., Professor, First Affiliated Hospital of Fujian Medical University
ClinicalTrials.gov Identifier: NCT04369209    
Other Study ID Numbers: MRCTA,ECFAH of FMU [2020]026
First Posted: April 30, 2020    Key Record Dates
Last Update Posted: September 24, 2021
Last Verified: September 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn