Investigating RNA biomarkers in myotonic dystrophy type 1
Official title: Extracellular RNA biomarkers of myotonic dystrophy type 1
Funded at Massachusetts General Hospital · NIH-10856448 · Data updated 2026-11-12
This study is looking for helpful markers in urine that can show how myotonic dystrophy type 1 is affecting your muscles, making it easier to track the disease without needing a muscle biopsy.
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 | 2025 |
| Award (this year) | $653,302 |
| NIH project number | 4R33NS117210-02 |
| Project ID | NIH-10856448 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with myotonic dystrophy type 1, including both adults and children.
✕Less likely to help
Patients with other forms of muscular dystrophy or those without a diagnosis of myotonic dystrophy type 1 may not benefit from this research.
What this research studies
This research focuses on myotonic dystrophy type 1 (DM1), a genetic disorder that leads to muscle weakness and wasting. It aims to identify extracellular RNA (exRNA) biomarkers in urine that can reflect the severity of the disease, providing a less invasive alternative to muscle biopsies. By analyzing the RNA released from cells, the study seeks to establish a correlation between these biomarkers and clinical measures of muscle function. This could enable better monitoring of disease progression and response to potential treatments.
Why it matters
Potential benefit: If successful, this research could provide a non-invasive method for monitoring disease activity in patients with myotonic dystrophy type 1.
How similar studies have gone: Previous research has shown promise in using RNA biomarkers for monitoring other diseases, suggesting potential success for this novel approach in myotonic dystrophy.
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.
-
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.