One of the core missions of ECMTF is to promote research across the whole of Europe into the causes and potential treatments for all types of CMT. When we can take donations, we will be actively seeking funding on a EU-wide scale to promote, not only direct research, but collaboration between researchers across Europe.
This is a comment received from Professor Mary Reilly from the MRC Centre for Neuromuscular Diseases in London:
One of the main challenges in developing therapies for CMT is the number of causative genes identified. CMT1A is the commonest form of CMT in the UK accounting for about 60% of patients. CMTX1 due to mutations in the gap junction protein beta-1 gene (GJB1, which encodes for the protein connexion 32) is the second commonest cause accounting for about 10% of cases.
The remaining 90+ genes affect the other 30% of the CMT population and there are more genes yet to be identified. This means that other than the 2 common genes the other forms of CMT are very rare with many affecting just a few families and in some cases just a single family.
The second major challenge in developing treatments for CMT is that fortunately CMT (especially
CMT1A) is a very slowly progressive disease that does not usually affect life expectancy. This means that any treatments developed have to be very safe especially as most forms of CMT start in childhood; in
developing treatments we need to remember they are likely to have to be started in children so need to be even safer as treatments would need not to interfere with their normal development.