I and many others have a rare type subtype of CMT called 4C. The 4C community is so small, it is really up to us, with the support of the CMTA, to push for research and treatment development for CMT4C. There is already a successful mouse model for a gene therapy for 4C, but there is still much to be done. An essential part of any pre-clinical trial moving into the clinical (or human) phase, is ensuring that the disease is well understood. There is still a great need for natural history studies to begin to collect data on this. There is also great need to push for other novel treatments and investigate ways to slow the progression of the nerve damage.

Dr. Kleopas A. Kleopa of the Cyprus Institute of Neurology and Genetics has been working on a CMT4C gene therapy which could potentially be a one-time cure for CMT 4C. In mice with the SH3TC2 gene mutation, treatment with this therapy seems to be effective. After treatment, mice with the gene mutation are stronger, steadier, have better balance, and act more like healthy mice. This is encouraging, but there is a lot of work that must be done before this could be applied to humans. The therapy could cause unwanted side effects in humans or may not even be effective at all, so it must be thoroughly tested before the therapy can be tested in humans at all - researchers must prove to the FDA and other agencies that it will be safe before testing in humans begins. The testing for this can be very expensive, so in order for this work to progress through the next steps, funding is needed.

Dr. Kleopa has been working together with Dr. David Herrmann at the University of Rochester to address the issue of precisely tracking the disease over a short time frame. Together, Drs. Kleopa and Herrman put together a proposal for a clinical trial readiness study to establish the progression, or “natural history” of CMT4C over a shorter time frame and hopefully validate some useful biomarkers, like indications in the blood or muscle that can quantify the amount the disease has progressed in a year. This proposal was developed this year with our steering committee and now needs funding.

We are on the right path! Join the Fight Against CMT: Your Contribution Matters in the Pursuit of a Cure.