Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
Trial Snapshot
- Phase
- Not Applicable
- Status
- Active, not recruiting
- Enrollment
- 75
- Locations
- 2
- Primary Endpoint
- Intramuscular fat infiltration on MRI
Study Overview
Brief Summary
The purpose of this research study is to identify and study changes in muscle in people with facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy.
Detailed Description
This research study is being done to study changes in muscle imaging over time in people with facioscapulohumeral muscular dystrophy (FSHD). Whole-body magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) will be used to evaluate skeletal muscle in study participants. This research is being done to assess how changes in muscle imaging correspond to muscle strength and function. Qualified participants will be asked to complete 5 study visits over 21 months. Each visit will include muscle strength and function testing in addition to the MRI/MRS scan. The investigators plan to use MRI and MRS in developing outcome measures that can be used in future clinical trials for FSHD.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 12 Years to — (Child, Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •Ability to give written informed consent for study participation (a parent or guardian will be asked to provide informed consent for participants younger than 18 years old)
- •Confirmed diagnosis of FSHD through genetic testing (participants will be asked to provide copies of genetic testing results)
Exclusion Criteria
- •Any contraindication to MRI scanning
- •Inability to complete a physical examination, including strength measurements
Outcomes
Primary Outcomes
Intramuscular fat infiltration on MRI
Time Frame: Baseline, 3 months, 9 months, 15 months, and 21 months
Intramuscular fat infiltration on MRI
Secondary Outcomes
- Intramuscular edema on MRI(Baseline, 3 months, 9 months, 15 months, and 21 months)
- Timed function testing(Baseline, 3 months, 9 months, 15 months, and 21 months)
- Muscle strength testing(Baseline, 3 months, 9 months, 15 months, and 21 months)