Investigating the factors that affect the severity of myotonic dystrophy.
Biological determinants of myotonic dystrophy variability
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 ID | NIH-10992318 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with myotonic dystrophy type 1 or type 2, regardless of age, who can provide genetic samples.
Not a fit: Patients with other forms of muscular dystrophy or those without a diagnosis of myotonic dystrophy may not benefit from this research.
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 performed: 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
Gainesville, United States
- University of Florida — Gainesville, United States (Active)
Researchers
- Principal investigator: Hamel, Johanna — University of Florida
- Study coordinator: Hamel, Johanna
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 below.