Extracellular RNA biomarkers to monitor myotonic dystrophy type 1
Official title: Extracellular RNA biomarkers of myotonic dystrophy type 1
Funded at Massachusetts General Hospital · NIH-11345157 · Data updated 2026-11-12
Doctors are studying urine RNA signals that may reflect how DM1 affects muscle function, to help track disease activity without painful biopsies.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | June 15, 2021 |
| Project end | May 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $634,278 |
| NIH project number | 5R33NS117210-03 |
| Project ID | NIH-11345157 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults and children with DM1 who are able to provide urine samples and participate in follow-up assessments.
✕Less likely to help
Patients who cannot provide urine samples or participate in longitudinal follow-up may not directly benefit.
What this research studies
Myotonic dystrophy type 1 (DM1) causes progressive muscle weakness and currently has no cure. This project tests whether extracellular RNA in urine can reliably reflect the disease’s activity and severity, potentially replacing invasive muscle biopsies for monitoring. By collecting data from multiple sites over several years, the team will compare urine RNA patterns with standard clinical measures of muscle function. If successful, this approach could provide a less painful, more practical way to track DM1 progression and response to future therapies.
Why it matters
Potential benefit: If the approach works, patients could have a noninvasive way to monitor disease activity and response to treatments over time.
How similar studies have gone: Previous work suggests urine exRNA may reflect disease activity in some conditions, but this DM1-specific approach is still under investigation.
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.
-
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.