Better tests and trial readiness for facioscapulohumeral dystrophy (FSHD)
Facioscapulohumeral dystrophy clinical trial foundations
['FUNDING_OTHER'] · UNIVERSITY OF WASHINGTON · NIH-11190911
This project will use MRI scans, muscle biopsies, molecular tests, and AI tools to find reliable markers of FSHD and test the safety and early effects of a drug that blocks the disease-causing DUX4 protein.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF WASHINGTON (nih funded) |
| Locations | 1 site (SEATTLE, UNITED STATES) |
| Trial ID | NIH-11190911 on ClinicalTrials.gov |
What this research studies
The team will apply automated, AI-driven analysis to existing and new long-term MRI scans to measure muscle fat and MRI features linked to FSHD progression. They will compare these MRI measures with molecular signals found in muscle biopsy samples and patient-derived cells to identify consistent biomarkers. Using those MRI and molecular markers, they will run a safety and tolerability study of clenbuterol, a drug that blocked DUX4 in lab tests. The group will also use these tools to validate and characterize a larger animal model to support future gene-targeted treatments.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with FSHD who are willing to share MRI scans, undergo muscle biopsies and clinical follow-up, or consider joining a safety/tolerability drug study.
Not a fit: People without FSHD or those unwilling to undergo imaging or biopsy are unlikely to directly benefit from participation.
Why it matters
Potential benefit: If successful, this work could provide reliable tests to track FSHD progression and speed up safe, effective clinical trials for new treatments.
How similar studies have performed: Prior work has shown MRI fat fraction and certain MRI features can track progression over 1–2 years and link to molecular signals, but combining AI MRI analysis with molecular markers and a drug safety study is a newer, more integrated approach.
Where this research is happening
SEATTLE, UNITED STATES
- UNIVERSITY OF WASHINGTON — SEATTLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: TAPSCOTT, STEPHEN J — UNIVERSITY OF WASHINGTON
- Study coordinator: TAPSCOTT, STEPHEN J
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.