Biological factors that drive variability in myotonic dystrophy
Official title: Biological determinants of myotonic dystrophy variability
Funded at University of Florida · NIH-11404431 · Data updated 2026-11-12
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.
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 | 2026 |
| Award (this year) | $242,237 |
| NIH project number | 5P50NS132955-03 |
| Project ID | NIH-11404431 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults with myotonic dystrophy type 1 or 2 who can participate in genetic, clinical, and remote-assessment components.
✕Less likely to help
Individuals without DM1/DM2 or those unable to participate in remote visits may not benefit directly.
What this research studies
Myotonic dystrophy type 1 and 2 are genetic diseases caused by abnormal repeats in RNA, and this project aims to understand why symptoms vary so much among patients. Researchers will examine how repeat length, tissue growth, and RNA-protein interactions contribute to disease severity using a new clinical assessment approach that includes remote study visits. The work is centered at the University of Florida with a focus on adult patients and muscle-related outcomes to better connect biology with how the disease presents in people. Findings could refine how we predict disease course and tailor future therapies.
Why it matters
Potential benefit: If successful, patients could benefit from more precise predictions of disease progression and more personalized treatment planning.
How similar studies have gone: Previous research has linked repeat length to disease features, but this project re-evaluates that relationship with a new assessment platform, making the approach novel.
Where this research is happening
-
University of Florida
Gainesville, United States Active
Researchers
- Principal investigator: Ranum, Laura P.w — University of Florida
- Study coordinator: Ranum, Laura P.w
Related research
Other NIH-funded projects on the same topics.
-
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.
-
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.
-
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).
-
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.
-
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.