- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT04369209
A Registered Cohort Study on FSHD1
July 21, 2023 updated by: Ning Wang, MD., PhD.
A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1
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 Overview
Status
Recruiting
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
Enrollment (Estimated)
1000
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: Ning Wang
- Phone Number: 13805015340 13805015340
- Email: ningwang@fjmu.edu.cn
Study Locations
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Fujian
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Fuzhou, Fujian, China, 350005
- Recruiting
- First Affiliated Hospital of Fujian Medical University
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Contact:
- Zhiqiang Wang
- Phone Number: 08659187982772 08659187982772
- Email: fmuwzq@fjmu.edu.cn
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Sub-Investigator:
- Zhiqiang Wang
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
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.
Description
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)
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
|
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
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).
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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 Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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.
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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)
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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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
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
January 1, 2001
Primary Completion (Estimated)
December 1, 2031
Study Completion (Estimated)
December 1, 2031
Study Registration Dates
First Submitted
April 26, 2020
First Submitted That Met QC Criteria
April 28, 2020
First Posted (Actual)
April 30, 2020
Study Record Updates
Last Update Posted (Estimated)
July 24, 2023
Last Update Submitted That Met QC Criteria
July 21, 2023
Last Verified
July 1, 2023
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- MRCTA,ECFAH of FMU [2020]026
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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Grete Andersen, MDCompletedFSHD - Facioscapulohumeral Muscular DystrophyDenmark
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