Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)NCT04369209
A Registered Cohort Study on FSHD1
An observational study of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1), run by Ning Wang, MD., PhD. at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)
- How many people
- 1,000 participants
- Where
- 1 siteChina
- Study dates
- Jan 2001to Dec 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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 locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site, 1 recruiting
- Recruiting
First Affiliated Hospital of Fujian Medical University
Fuzhou, Fujian, 350005
Zhiqiang Wang, 08659187982772 ext. 08659187982772, fmuwzq@fjmu.edu.cn
Zhiqiang Wang
About this study
Official title: 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.
Read the 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.
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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).
Measured: 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
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.
Measured: 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)
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.
Measured: 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
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Apr 2020
- Study startJan 2001
- Primary completionDec 2031 (estimated)
- Study completionDec 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Ning Wang, MD., PhD.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor-investigator, Ning Wang, MD., PhD., First Affiliated Hospital of Fujian Medical University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04369209
- Sponsor's protocol ID
- MRCTA,ECFAH of FMU [2020]026
- Status last verified
- Aug 2024
- First submitted
- 26 Apr 2020
- Last updated
- 26 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Lin X, He Q, Zeng M, Lin Y, Xu X, Chen X, Lin X, Wang Z. Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study. PeerJ. 2026 Apr 2;14:e21043. doi: 10.7717/peerj.21043. eCollection 2026.
PubMed 41943824
Study at a glance
From the registry record, last updated by the sponsor on 26 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1
- ClinicalTrials.gov ID
- NCT04369209
- Acronym / sponsor ID
- MRCTA,ECFAH of FMU [2020]026
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Ning Wang, MD., PhD.University, hospital or other
- Study start
- Jan 2001 (actual)
- Primary completion
- Dec 2031 (estimated)
- Study completion
- Dec 2031 (estimated)
- First posted
- 30 Apr 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (3 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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).
2 secondary outcomes
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 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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Aug 2024.
- Derived from this study: PubMed 41943824Lin X, He Q, Zeng M, Lin Y, Xu X, Chen X, Lin X, Wang Z. Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study. PeerJ. 2026 Apr 2;14:e21043. doi: 10.7717/peerj.21043. eCollection 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1), run by Ning Wang, MD., PhD. at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ning Wang (13805015340 ext. 13805015340, ningwang@fjmu.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04369209, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Aug 2024.