Understanding why muscles weaken in myotonic dystrophy type 1
Mechanisms of Skeletal Muscle Pathogenesis in Myotonic Dystrophy Type 1
['FUNDING_R01'] · BAYLOR COLLEGE OF MEDICINE · NIH-11387396
This project aims to find what causes progressive muscle weakness in people with myotonic dystrophy type 1 by studying how abnormal RNA affects muscle cells.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BAYLOR COLLEGE OF MEDICINE (nih funded) |
| Locations | 1 site (HOUSTON, UNITED STATES) |
| Trial ID | NIH-11387396 on ClinicalTrials.gov |
What this research studies
They study how expanded CTG repeats in the DMPK gene produce toxic RNA that forms nuclear clumps and traps key splicing proteins. In mouse muscle models they examine how loss of MBNL proteins and increased CELF1 lead to wrong RNA splicing and muscle damage. The team will compare these laboratory findings with human blood and tissue samples to connect molecular changes to patient muscle symptoms. The goal is to reveal mechanisms that could point to future treatment targets.
Who could benefit from this research
Good fit: Adults with genetically confirmed myotonic dystrophy type 1, especially those willing to provide blood or muscle tissue samples, are the most relevant candidates for participation or sample donation.
Not a fit: People without DM1 or those seeking immediate clinical treatment should not expect direct personal benefit from this basic-mechanism research.
Why it matters
Potential benefit: If successful, this work could identify molecular targets to prevent or reverse muscle wasting in people with DM1.
How similar studies have performed: Previous research established that CUG-repeat RNA sequesters MBNL proteins and causes mis-splicing, but the reasons for CELF1 upregulation in muscle remain less understood.
Where this research is happening
HOUSTON, UNITED STATES
- BAYLOR COLLEGE OF MEDICINE — HOUSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: COOPER, THOMAS A — BAYLOR COLLEGE OF MEDICINE
- Study coordinator: COOPER, THOMAS A
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.