KCTD11-related CMT neuropathy: uncovering how it damages nerves
Official title: Exploring the pathophysiology of KCTD11-related CMT neuropathy
Funded at Albany Medical College · NIH-11438330 · Data updated 2026-11-12
We are studying a genetic form of Charcot–Marie–Tooth disease to understand what goes wrong in nerves and support future treatments.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Albany Medical College NIH-funded |
| Lab location | 1 site (Albany, United States) |
| Project start | August 10, 2026 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $164,000 |
| NIH project number | 1R03NS151642-01 |
| Project ID | NIH-11438330 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with Charcot–Marie–Tooth disease linked to KCTD11 mutations or related RI-CMT traits may benefit from the insights and resources generated.
✕Less likely to help
People without KCTD11-related CMT or related genetic forms may not directly benefit from this study.
What this research studies
This project will create new patient-relevant models to study how loss of KCTD11 affects nerve cells and their myelin. By using genetic, cellular, and molecular techniques, researchers will map which cells—Schwann cells, neurons, or both—drive disease features and how nerve signals are disrupted. The work aims to establish a mechanistic framework for this form of CMT and to share resources with the research community to accelerate progress toward therapies.
Why it matters
Potential benefit: Understanding the disease mechanism could guide the development of targeted therapies for people with KCTD11-related CMT.
How similar studies have gone: Previous efforts in CMT research have advanced mechanistic insights, and this study’s patient-relevant models aim to build on that progress.
Where this research is happening
-
Albany Medical College
Albany, United States Active
Researchers
- Principal investigator: Poitelon, Yannick — Albany Medical College
- Study coordinator: Poitelon, Yannick
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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.