Extracellular RNA biomarkers in myotonic dystrophy
Official title: Prospective study in myotonic dystrophy to determine extracellular RNA biomarkers
Funded at Massachusetts General Hospital · NIH-11379699 · Data updated 2026-11-12
A study at a major hospital will look for extracellular RNA in body fluids to find clues about myotonic dystrophy and how it affects the brain and muscles.
Quick facts
| Grant type | U01 cooperative agreement |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | September 15, 2023 |
| Project end | August 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $400,000 |
| NIH project number | 5U01FD008128-04 |
| Project ID | NIH-11379699 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals diagnosed with myotonic dystrophy type 1 (DM1), particularly those experiencing CNS or skeletal muscle symptoms.
✕Less likely to help
People without DM1 or those not contributing CSF or other samples may not receive a direct benefit.
What this research studies
This project will recruit participants with myotonic dystrophy to examine extracellular RNA in cerebrospinal fluid and other fluids as potential markers of disease activity. Researchers will use cutting-edge RNA techniques to identify patterns linked to CNS symptoms and muscle weakness. The goal is to find biomarkers that reflect how the disease progresses and responds to future therapies, especially antisense approaches. Results could guide future trials and help doctors monitor disease more precisely from a patient-friendly perspective.
Why it matters
Potential benefit: If successful, patients could benefit from better disease monitoring and more targeted treatment strategies in the future.
How similar studies have gone: Prior work has shown exRNA patterns can reflect disease processes in neuromuscular conditions, but DM1-specific CSF exRNA biomarkers are still being explored.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Wheeler, Thurman M — Massachusetts General Hospital
- Study coordinator: Wheeler, Thurman M
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.