New study aims to restore myelin and improve nerve function in CMT1A
For people living with Charcot-Marie-Tooth disease type 1A (CMT1A), everyday movement and sensation are affected by damage to the protective covering around nerves. A new three-year study funded by CMTA will test whether changing a recently discovered “control switch” in nerve-supporting Schwann cells can lower damaging PMP22 protein levels and help nerves function more normally. The research is led by Sophie Belin, PhD, and Yannick Poitelon, PhD, at Albany Medical College.
Why This Study Matters
CMT1A is the most common type of CMT. It is caused by an extra copy of a gene called PMP22. This extra copy leads to too much PMP22 protein, which harms myelin — the protective coating around nerves that helps signals travel quickly from the brain to the muscles. When myelin is damaged, nerves cannot send signals the way they should. Over time, this leads to progressive muscle weakness, balance problems, and sensory loss.
The Research Approach
The scientists will study a recently identified “control switch” inside Schwann cells, the cells that produce and maintain myelin. They believe this switch helps control how much PMP22 is made. By adjusting it, they hope to reduce the excess protein and give myelin a chance to repair itself.
To test this idea, the researchers will use molecules that were first created for cancer research. Because these molecules have already been studied for safety in people, they could move into CMT testing more quickly than a drug developed entirely from scratch.
What the Experts Say
“This CMTA Strategy To Accelerate Research (CMTA-STAR) project explores an encouraging approach to treating CMT by targeting a newly discovered pathway,” said Katherine Forsey, PhD, CMTA Chief Research Officer. “We are excited to break new ground in the development of treatments for CMT1A.”
Drs. Belin and Poitelon added, “We’ve spent years in the lab studying Schwann cell biology and uncovering the mechanism behind peripheral neuropathies. This project represents the pinnacle of that journey, finally reaching a point where our discoveries could translate into a treatment that targets the root cause of CMT1A.”
Moving Research Forward
This study is the latest example of how CMTA-STAR supports projects that directly target the biology of CMT. By funding research that takes promising ideas from the lab and moves them closer to the clinic, CMTA is building the foundation for future treatments.
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