15 June 2024

Last Saturday, June 15, 2024 we attended the webinar organized by the CMT FRANCE association entitled “Dynamism of research on the CMT in France”.

It was very interesting to hear the intervention of authoritative French specialists introduced by Alexandre Hoyau, President of CMT France , whom we thank for the invitation to attend.

In particular, Prof. Attarian explained the complicated situation of neuromuscular diseases in France, which consist of 700 forms of rare neuromuscular diseases (spinal amyotrophies, muscle diseases, peripheral nerve diseases, mitochondrial diseases, diseases of neuromuscular transmission) of which about 60 thousand people are affected. The diagnosis, research and management are coordinated by the Filnemus network, consisting of 10 commissions with 24 doctors responsible for action groups throughout France. One of their priorities is to develop translational research within the network.

The interventions were largely related to research on the CMT1A, the most frequent type, which have many treatment prospects underway; but we also talked of the reasons why research times are so long, about studies on CMT4H due to mutations in the FGD4/FRABIN gene, on the discovery of the COQ7 gene, therapeutic strategies for CMT with STOP mutations and about the use of curcumin as a possible cure (for CMT1A)a possible siRNA therapeutic strategy for CMT1A.

The most interesting intervention was the one of Dr Nathalie Bernard-Marissal, researcher of INSERM (National Institute of Health and Medical Research) – University of Aix-Marseille (dip. Translazional Neuromyology) about scientific research for the CMT2A. He briefly mentioned the currently developing therapeutic approaches that are: an axonal transport booster with the inhibitor HDAC6 (Picci , 2020); a cell fusion activator peptide”(Franco A. 2020); stop axon degeneration with neuroprotector SARM1 (Sato-Yamada 2022).

With our great satisfaction, he mentioned our research project with gene therapy, conducted at the Dino Ferrari Center by the team of Prof Corti with Dr Rizzo, as the most interesting and promising therapeutic approach, which is also being tested at their research group.

For us it is a good news, both because it confirms the validity of our project, and because we could get synergies between the two study groups, as already exists between our association and the CMT association of our dear friends across the Alps, with whom we have been working effectively for years.

For any further information on the topic, please refer to the CMT France website and for any questions (including translation) you can contact us.