FSHD Molecular Characterization
- Conditions
- Facio-Scapulo-Humeral Dystrophy
- Registration Number
- NCT06096441
- Lead Sponsor
- Nationwide Children's Hospital
- 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 and protein, which is the fundamental molecular defect in FSHD. In anticipation of a future clinical trial, the Investigators intend to assess the correlation between the expression of these relevant biomarkers and clinical functional measures. The Investigators will also explore the utility of muscle MRI in identifying regions of muscle suitable for sampling for relevant biomarkers, as MRI-related signal changes have been proposed as an anatomic marker of early FSHD pathology.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 25
- 13 years or older
- Genetically proven FSHD1 or FSHD2 as determined by the investigators
- Inability to complete an MRI scan (Adults only).
- Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Validation of Biomarkers Through study completed, anticipated to be 4 years. To validate alterations in therapeutically relevant biomarkers in muscle tissue from FSHD participants. Each participant will provide data at a single timepoint. The data in totality will be reviewed upon study completion.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
The Abigail Wexner Research Institute at Nationwide Children's Hospital
🇺🇸Columbus, Ohio, United States