Status:
TERMINATED
FSHD Molecular Characterization
Lead Sponsor:
Nationwide Children's Hospital
Conditions:
Facio-Scapulo-Humeral Dystrophy
Eligibility:
All Genders
13+ years
Brief Summary
To characterize the clinical and molecular phenotype of FSHD.
Detailed Description
The purpose of this study is to validate alterations in therapeutically relevant biomarkers in muscle tissue from FSHD patients. These biomarkers are responsive to the upregulation of the DUX4 gene an...
Eligibility Criteria
Inclusion
- 13 years or older
- Genetically proven FSHD1 or FSHD2 as determined by the investigators
Exclusion
- Inability to complete an MRI scan (Adults only).
- Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.
Key Trial Info
Start Date :
March 5 2021
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
September 9 2025
Estimated Enrollment :
1 Patients enrolled
Trial Details
Trial ID
NCT06096441
Start Date
March 5 2021
End Date
September 9 2025
Last Update
September 18 2025
Active Locations (1)
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1
The Abigail Wexner Research Institute at Nationwide Children's Hospital
Columbus, Ohio, United States, 43205