How muscles are damaged in myotonic dystrophy type 1
Official title: Mechanisms of Skeletal Muscle Pathogenesis in Myotonic Dystrophy Type 1
Funded at Baylor College of Medicine · NIH-11164817 · Data updated 2026-11-12
This project will uncover how abnormal RNA and protein changes cause muscle weakness and wasting in people with myotonic dystrophy type 1.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project start | September 6, 2023 |
| Project end | August 31, 2028 |
| Funding year | 2025 |
| Award (this year) | $508,271 |
| NIH project number | 5R01AR082852-03 |
| Project ID | NIH-11164817 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with genetically confirmed myotonic dystrophy type 1 who are willing to provide blood or muscle samples or participate in related clinical sample collections would be the best fit.
✕Less likely to help
People without DM1 or those seeking immediate clinical treatments are unlikely to gain direct benefits from this basic-mechanism research.
What this research studies
Researchers are studying DM1, a genetic condition where an expanded repeat in the DMPK gene makes toxic RNA that traps important muscle proteins and disrupts normal muscle development. The team combines experiments in lab-grown cells and mouse genetic models with studies of human blood and tissue samples to follow how these RNA and protein changes harm muscle. They are especially focused on why the CELF1 protein becomes too abundant in affected muscle and how that contributes to disease. Findings will map the step-by-step changes that lead to muscle wasting and point to molecular targets for future treatments.
Why it matters
Potential benefit: If successful, this work could point to new ways to prevent or reverse muscle weakness in people with DM1 by targeting the molecular steps that cause damage.
How similar studies have gone: Previous studies have shown that fixing MBNL-related splicing problems can improve symptoms in models, but the specific causes of CELF1 upregulation in muscle remain a newer and less-tested area.
Where this research is happening
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Cooper, Thomas a — Baylor College of Medicine
- Study coordinator: Cooper, Thomas a
Related research
Other NIH-funded projects on the same topics.
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New small molecule therapeutics to help myotonic dystrophy
A new NIH-funded project tests specially designed small molecules to lower harmful RNA activity in myotonic dystrophy and related diseases, aiming to reduce disease-driving RNA effects.
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Mechanisms of muscle disease in myotonic dystrophy type 1
This project looks at why skeletal muscles weaken and waste away in adults with myotonic dystrophy type 1 and aims to uncover the underlying molecular causes.
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Extracellular vesicle biomarkers to monitor DM1 using urine and blood samples
A study looking for easy, noninvasive biomarkers in urine and blood to track disease activity in people with myotonic dystrophy type 1.
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Calcium Channel Blocker in DM1: Can amlodipine help myotonic dystrophy type 1
This study tests whether the calcium‑channel blocker amlodipine can improve symptoms and survival in myotonic dystrophy type 1 (DM1).
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Preparing therapies for DM1 across ages, with a focus on children
A broad, patient-focused effort to bring promising DM1 therapies to both children and adults by enriching trial readiness, biomarkers, and natural history data.
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Biological factors that drive variability in myotonic dystrophy
This grant explores why myotonic dystrophy can look very different from person to person by studying its genetic changes and how they affect muscle in adults.
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.