Clinical and Molecular Characterization of Facioscapulohumeral Muscular Dystrophy (FSHD)
Trial Snapshot
- Phase
- Not Applicable
- Status
- Terminated
- Enrollment
- 1
- Locations
- 1
- Primary Endpoint
- Validation of Biomarkers
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Case Only
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 13 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •13 years or older
- •Genetically proven FSHD1 or FSHD2 as determined by the investigators
Exclusion Criteria
- •Inability to complete an MRI scan (Adults only).
- •Other medical or cognitive issues that, in the opinion of the examiner, preclude accurate functional assessment.
Outcomes
Primary Outcomes
Validation of Biomarkers
Time Frame: 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 Outcomes
No secondary outcomes reported
Investigators
Kevin Flanigan
Director, Center for Gene Therapy, Professor of Pediatrics and Neurology
Nationwide Children's Hospital