Why myotonic dystrophy symptoms and timing differ between people
Official title: Biological determinants of myotonic dystrophy variability
Funded at University of Florida · NIH-11161633 · Data updated 2026-11-12
Researchers will look at repeat lengths and other biological signs in adults with myotonic dystrophy to help explain why symptoms and age of onset vary.
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 | 2025 |
| Award (this year) | $361,046 |
| NIH project number | 5P50NS132955-02 |
| Project ID | NIH-11161633 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with a confirmed genetic diagnosis of myotonic dystrophy (DM1 or DM2) who can participate in remote visits and provide blood and, if requested, muscle samples are ideal candidates.
✕Less likely to help
Children under 18, people without a confirmed DM diagnosis, or those seeking immediate therapeutic benefit rather than research participation are unlikely to gain direct benefit from this grant.
What this research studies
You would take part through remote study visits where we collect medical information and biological samples like blood and possibly small muscle samples. The team will measure the length and behavior of the expanded repeats in different tissues and track how they change with age. Lab studies will examine how the mutated RNA and its binding proteins form nuclear condensates that may drive symptoms. The project combines new clinical tools, remote visits, and laboratory analyses to link molecular findings with how people actually feel and function.
Why it matters
Potential benefit: If successful, this work could improve predictions about disease course and help tailor monitoring or future treatments for people with myotonic dystrophy.
How similar studies have gone: Previous studies have partly linked repeat length to symptoms but results are mixed, so this project builds on past work using newer measurement tools and 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.