Actively Recruiting

All Genders
Healthy Volunteers
ID04369209

A Registered Observational Cohort Study of Facioscapulohumeral Muscular Dystrophy Type 1

Led by Ning Wang, MD., PhD. · Updated on 2024-08-26

1000

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

This observational study focuses on individuals of all ages with genetically confirmed Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1), including those with or without symptoms, as well as unrelated healthy controls. The goal is to better understand the prevalence, progression, and natural history of FSHD1 to aid healthcare providers in making informed medical and financial decisions. Participants are enrolled in a nationwide registry where data is collected retrospectively at entry and prospectively during follow-up. This non-interventional cohort study does not involve treatment but monitors participants over time to observe disease progression using genetic confirmation methods and clinical evaluations. Participants provide data that includes clinical scoring and muscle strength assessments, tracked from the time of enrollment until documented disease progression or death, with follow-up lasting up to 20 years. Researchers use tools such as PFGE-based Southern blotting, the FSHD Clinical Score, the modified Medical Research Council scale, and the Comprehensive Clinical Evaluation Form to measure outcomes and understand disease impact over time.

CONDITIONS

Brief Title

A Registered Cohort Study on FSHD1

Who Can Participate

All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Male or female subjects of all ages at baseline
  • Subjects with or without symptoms who have genetic confirmation of FSHD1 through PFGE-based Southern blotting
  • Unrelated healthy controls
Not Eligible

You will not qualify if you...

  • Decline to participate
  • Presence of other neuromuscular diseases such as Limb-girdle muscular dystrophy or Myotonic dystrophy
  • Serious systemic illnesses including heart, liver, kidney disease, or major mental illness

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Surveillance

Duration - Up to 20 years

Participants with genetically-confirmed FSHD1 and healthy controls are observed to understand the prevalence, progression, and natural history of the disease.

Periodic assessments during follow-up visits

Trial Site Locations

Total: 1 location

1

First Affiliated Hospital of Fujian Medical University

Fuzhou, Fujian, China, 350005

Actively Recruiting

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Research Team

N

Ning Wang

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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Published Research Related To This Trial

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.

Xiaodan Lin, Qifang He, Minghui Zeng...

https://pubmed.ncbi.nlm.nih.gov/41943824