Evaluating a new treatment for a rare muscle disease called GNE myopathy
Official title: Clinical Coordinating Center for the Network of Excellence in Neuroscience Clinical Trials (NEXT - CCC)
Funded at Massachusetts General Hospital · NIH-11259678 · Data updated 2026-11-12
This study is testing a new treatment called N-acetyl-D-mannosamine (ManNAc) for people with GNE myopathy, a muscle disease that can make daily activities difficult, to see if it’s safe and effective for helping improve their condition.
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 | March 1, 2025 |
| Project end | August 31, 2025 |
| Funding year | 2025 |
| Award (this year) | $1,180,472 |
| NIH project number | 3U01NS077179-14S1 |
| Project ID | NIH-11259678 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with GNE myopathy who are experiencing varying degrees of muscle weakness.
✕Less likely to help
Patients with other types of muscle diseases or those not diagnosed with GNE myopathy may not benefit from this research.
What this research studies
This research focuses on GNE myopathy, a progressive muscle disease that leads to significant disability. The study aims to evaluate the safety and efficacy of a new treatment called N-acetyl-D-mannosamine (ManNAc) through a randomized, double-blind, placebo-controlled trial. By utilizing a disease progression model developed from previous studies, the research seeks to recruit a diverse group of patients across the disease spectrum to ensure the findings are applicable to a broader population. The ultimate goal is to gather data that could support FDA approval for this treatment.
Why it matters
Potential benefit: If successful, this research could provide a new treatment option for patients suffering from GNE myopathy.
How similar studies have gone: Previous studies have shown promise in developing treatments for rare muscle diseases, but this specific approach using ManNAc is novel.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Cudkowicz, Merit E — Massachusetts General Hospital
- Study coordinator: Cudkowicz, Merit E
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.