Investigating the factors that affect the severity of myotonic dystrophy.
Official title: Biological determinants of myotonic dystrophy variability
Funded at University of Florida · NIH-10992318 · Data updated 2026-11-12
This study is looking at how certain genetic differences affect the symptoms of myotonic dystrophy types 1 and 2, and it’s designed for patients who want to learn more about how their genes might influence their condition, all while participating from home.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Florida NIH-funded |
| Lab location | 1 site (Gainesville, United States) |
| Project start | August 15, 2024 |
| Project end | July 31, 2028 |
| Funding year | 2024 |
| Award (this year) | $361,440 |
| NIH project number | 1P50NS132955-01A1 |
| Project ID | NIH-10992318 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with myotonic dystrophy type 1 or type 2, regardless of age, who can provide genetic samples.
✕Less likely to help
Patients with other forms of muscular dystrophy or those without a diagnosis of myotonic dystrophy may not benefit from this research.
What this research studies
This research focuses on understanding the biological factors that contribute to the variability in symptoms of myotonic dystrophy types 1 and 2. It examines how genetic variations, specifically expanded RNA repeats, influence the onset and severity of the disease. Patients will be involved in remote study visits, allowing for clinical assessments without the need for in-person visits. The research aims to clarify the relationship between genetic factors and clinical outcomes in myotonic dystrophy.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of myotonic dystrophy, potentially enhancing patient care and treatment strategies.
How similar studies have gone: Previous research has shown promising results in understanding genetic factors in myotonic dystrophy, but this specific approach is novel in its focus on remote assessments.
Where this research is happening
-
University of Florida
Gainesville, United States Active
Researchers
- Principal investigator: Hamel, Johanna — University of Florida
- Study coordinator: Hamel, Johanna
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.