Mechanisms of muscle disease in myotonic dystrophy type 1
Official title: Mechanisms of Skeletal Muscle Pathogenesis in Myotonic Dystrophy Type 1
Funded at Baylor College of Medicine · NIH-11597907 · Data updated 2026-11-12
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.
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 | 2026 |
| Award (this year) | $132,536 |
| NIH project number | 3R01AR082852-04S1 |
| Project ID | NIH-11597907 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with myotonic dystrophy type 1 or related muscular dystrophy conditions, and individuals providing muscle tissue samples.
✕Less likely to help
People without DM1 or related muscle conditions may not directly benefit from this research.
What this research studies
If you have DM1 or a related muscular dystrophy, this project aims to understand how abnormal RNA with CTG repeats disrupts muscle cell function. Researchers will study how toxic RNA affects muscle proteins MBNL and CELF1, leading to misbehaving gene splicing and fetal-like protein patterns in adult muscle. The work involves analyzing human muscle samples and related models to pinpoint where the disease process goes wrong. By clarifying these mechanisms, the study could point to targets for future therapies that improve muscle strength and function.
Why it matters
Potential benefit: Improved understanding of DM1 biology could guide the development of treatments to reduce muscle weakness and degradation.
How similar studies have gone: Past research has linked altered splicing and RNA toxicity to DM1; this study builds on those findings with a deeper mechanistic look.
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.
-
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.
-
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.
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Identifying RNA Splicing and Gene Expression Changes in congenital myotonic dystrophy
This grant looks at how RNA changes contribute to congenital myotonic dystrophy to understand why symptoms change as children grow.
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.