Facio-Scapulo-Humeral Dystrophy
Conditions
Keywords
FSHD
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.
Interventions
None listed
Sponsors
Nationwide Children's Hospital
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
13 Years to No maximum
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
United States
Outcome results
None listed