Investigating the mechanisms and potential therapies for Charcot-Marie-Tooth Disease Type 2E
Official title: Charcot-Marie-Tooth Disease Type 2E: Mechanism and therapy
Funded at Ohio State University · NIH-11029080 · Data updated 2026-11-12
This study is looking into how certain genetic changes in Charcot-Marie-Tooth Disease Type 2E affect nerve cells and their ability to function properly, with the hope of finding new ways to help people with this condition feel better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ohio State University NIH-funded |
| Lab location | 1 site (Columbus, UNITED STATES) |
| Project start | May 15, 2025 |
| Project end | April 30, 2030 |
| Funding year | 2025 |
| Award (this year) | $499,452 |
| NIH project number | 1R01NS140664-01 |
| Project ID | NIH-11029080 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Charcot-Marie-Tooth Disease Type 2E, particularly those with specific mutations in the NFL gene.
✕Less likely to help
Patients with other forms of Charcot-Marie-Tooth disease or unrelated neuropathies may not benefit from this research.
What this research studies
This research focuses on understanding the mechanisms behind Charcot-Marie-Tooth Disease Type 2E (CMT2E), a hereditary neuropathy caused by mutations in neurofilament proteins. The study aims to explore how these mutations affect the assembly and transport of neurofilaments in neurons, which are crucial for proper nerve function. By using patient-derived cells and advanced imaging techniques, researchers will investigate the accumulation of neurofilaments and its impact on nerve health. The ultimate goal is to develop a pre-clinical therapeutic strategy that could improve outcomes for patients with this condition.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that improve nerve function and quality of life for patients with Charcot-Marie-Tooth Disease Type 2E.
How similar studies have gone: Previous research has shown promise in understanding neurofilament dynamics in other neurodegenerative diseases, suggesting that this approach may yield valuable insights for CMT2E.
Where this research is happening
-
Ohio State University
Columbus, United States Active
Researchers
- Principal investigator: Brown, Anthony — Ohio State University
- Study coordinator: Brown, Anthony
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.