RNA markers for myotonic dystrophy in spinal fluid and blood
Official title: Prospective study in myotonic dystrophy to determine extracellular RNA biomarkers
Funded at Massachusetts General Hospital · NIH-11162389 · Data updated 2026-11-12
This project looks for RNA signals in spinal fluid and blood that could help track brain and muscle changes in people with myotonic dystrophy type 1.
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 | 2025 |
| Award (this year) | $400,000 |
| NIH project number | 5U01FD008128-03 |
| Project ID | NIH-11162389 on NIH RePORTER |
Who could benefit from this research
✓Could help
People with genetically confirmed myotonic dystrophy type 1, particularly those with CNS symptoms such as sleepiness, memory or breathing problems, are the best candidates.
✕Less likely to help
People without DM1, those with only myotonic dystrophy type 2, or those unwilling to undergo lumbar puncture are unlikely to be eligible or to benefit.
What this research studies
If you join, doctors will collect samples such as cerebrospinal fluid (CSF) and blood to look for extracellular RNAs that come from brain and muscle. Researchers will compare these RNA patterns to known mis-splicing changes in DM1 and to symptoms like sleep problems, daytime sleepiness, and memory issues. The team aims to find reliable markers in CSF or blood that reflect central nervous system involvement and that could indicate whether antisense therapies are affecting the disease. Procedures will likely include lumbar puncture, blood draws, and clinical assessments at Massachusetts General Hospital.
Why it matters
Potential benefit: If successful, this work could provide tests that detect brain involvement in DM1 and help show whether new treatments are working.
How similar studies have gone: Previous work has used muscle splicing patterns as pharmacodynamic markers for antisense therapies, but using CSF or blood extracellular RNA to monitor brain changes in DM1 is largely new.
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
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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.