Evaluating a new treatment for a rare muscle disease called GNE myopathy
Clinical Coordinating Center for the Network of Excellence in Neuroscience Clinical Trials (NEXT - CCC)
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 ID | NIH-11259678 on NIH RePORTER |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with GNE myopathy who are experiencing varying degrees of muscle weakness.
Not a fit: Patients with other types of muscle diseases or those not diagnosed with GNE myopathy may not benefit from this research.
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 performed: 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
Boston, United States
- 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 below.