Charcot Marie Tooth disease is a rare genetic disease that causes damage to the peripheral nerves affecting hands and feet and often making walking and running challenging or impossible. CMT4C is a rare subtype of this already rare disease caused by inheriting two copies of the recessive gene. But despite CMT4C being incredibly rare, there is already a promising roadmap to a potential treatment.

It is well understood exactly which gene causes the destructive effects of CMT4C, and there is even a promising therapy that has been shown to repair this faulty gene in mice But we are still missing an essential piece: a rigorous, clinical-focused natural history study to show how the disease progresses without treatment, and that confirms the best way to measure this disease progression over time. Without this, there is no way to run a trial for any sort of therapy because there would be no documented "natural progression" to compare it with and no way to measure if it's working.

We have identified exactly the right researchers to do this study - they have completed similar studies in other types of CMT that yielded exactly the result we would need. They are willing to put together the plan and execute the study - but it needs to be funded. That is where we are asking for your help. The CMT4C community is small, so it is up to us, with the support of the CMTA and our communities to raise the funds to get this key step accomplished and push forward with research for treatment options. Please help us foresee the end of 4C!

The CMT4C Advocacy Group is working to connect those affected by Charcot-Marie-Tooth disease type 4C: patients, loved ones and the organizations and researchers who are developing treatments. For more information, please visit the CMT4C Advocacy Group.