Biomarkers and outcome measures for Myotonic Dystrophy Type 1
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type-1 (Renewal)
The project aims to find blood and clinical signs that track disease course and treatment effects in people with Myotonic Dystrophy Type 1.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Virginia Commonwealth University NIH-funded |
| Lab location | 1 site (Richmond, United States) |
| Project ID | NIH-11349342 on NIH RePORTER |
What this research studies
If you join, researchers will follow people with DM1 over time and collect clinical tests like muscle strength, heart rhythm checks, eye exams, and questionnaires about daily function. They will also collect blood and other samples to look for RNA and splicing changes that may act as measurable biomarkers. The team has already enrolled 277 participants in the END-DM1 natural history effort and is renewing the work to complete missed visits and strengthen the data after COVID-19 disruptions. The goal is to define reliable outcome measures that could be used in future clinical trials of DM1 therapies.
Who could benefit from this research
Good fit: Adults with genetically confirmed Myotonic Dystrophy Type 1 across a range of severities who can attend clinic visits and provide blood and clinical data would be ideal candidates.
Not a fit: People without DM1, those with other neuromuscular diseases, or individuals unable to travel for study visits or provide samples are unlikely to receive direct benefit from this project.
Why it matters
Potential benefit: Successful results could speed development of new treatments by giving doctors reliable ways to measure whether a therapy helps people with DM1.
How similar studies have performed: Previous natural history work and early-phase trials have identified candidate clinical measures and molecular signals, but no biomarkers or endpoints are yet validated for pivotal DM1 trials.
Where this research is happening
Richmond, United States
- Virginia Commonwealth University — Richmond, United States (Active)
Researchers
- Principal investigator: Johnson, Nicholas Elwood — Virginia Commonwealth University
- Study coordinator: Johnson, Nicholas Elwood
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.