Understanding muscle problems in myotonic dystrophy type 1
Official title: Mechanisms of Skeletal Muscle Pathogenesis in Myotonic Dystrophy Type 1
Funded at Baylor College of Medicine · NIH-10922861 · Data updated 2026-11-12
This study is looking into why people with myotonic dystrophy type 1 experience muscle weakness and wasting, focusing on how a specific genetic change affects muscle cells, and it hopes to find new ways to help treat this condition by working with patients to collect blood and muscle samples.
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 | 2024 |
| Award (this year) | $547,257 |
| NIH project number | 5R01AR082852-02 |
| Project ID | NIH-10922861 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults diagnosed with myotonic dystrophy type 1 who are experiencing muscle weakness.
✕Less likely to help
Patients with other forms of muscular dystrophy or those without a diagnosis of myotonic dystrophy type 1 may not benefit from this research.
What this research studies
This research investigates the underlying mechanisms that lead to muscle weakness and wasting in individuals with myotonic dystrophy type 1 (DM1). The study focuses on how a specific genetic mutation affects RNA processing in muscle cells, leading to the misregulation of important proteins involved in muscle development. By examining the roles of certain RNA binding proteins, the research aims to uncover the reasons behind muscle degeneration in DM1, which could pave the way for new treatment strategies. Patients may be involved through the collection of blood samples and muscle tissue for analysis.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that improve muscle function and quality of life for patients with myotonic dystrophy type 1.
How similar studies have gone: Previous research has shown promising results in understanding muscle pathogenesis in similar genetic disorders, indicating that this approach could yield valuable insights.
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.