Biomarkers and outcome measures for Myotonic Dystrophy Type 1
Official title: Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type-1 (Renewal)
Funded at Virginia Commonwealth University · NIH-11349342 · Data updated 2026-11-12
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 start | September 15, 2022 |
| Project end | February 28, 2027 |
| Funding year | 2026 |
| Award (this year) | $391,286 |
| NIH project number | 5R01FD006071-06 |
| Project ID | NIH-11349342 on NIH RePORTER |
Who could benefit from this research
✓Could help
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.
✕Less likely to help
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.
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.
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 gone: 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
-
Virginia Commonwealth University
Richmond, United States Active
Researchers
- Principal investigator: Johnson, Nicholas Elwood — Virginia Commonwealth University
- Study coordinator: Johnson, Nicholas Elwood
Related research
Other NIH-funded projects on the same topics.
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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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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.