French Rett Syndrome Family Days – 06/10 and 07/10/2018 in Paris

The French national days for Rett syndrome celebrated the 30 years anniversary of the French Rett Association. There were 223 participants. We could see in the corridor a nice overview of the history of the association. As usually the themes presented were very interesting: you can see the program in the picture. A surprising and much appreciated topic was ‘gastronomic mixed food’: https://drive.google.com/drive/folders/1UJO-lBEFQuO6ecAq-23YWoWu_9Z6sjB9

Jean-Christophe Roux , Directeur de Recherche Inserm au Centre de Génétique Médicale de Marseille (UMR_S910), Faculté de la Timone gave us an excellent , comprehensive and objective overview of the latest ongoing international research and clinical trials. At this moment we do not have an effective treatment but the future is hopeful.
For a rare disease we are lucky to have a lot of clinical trials in Rett syndrome. Why is there so much interest in this rare disease? Firstly many other diseases are linked with problems on the X chromosome and secondly is initially the result of the lobbying by IRSF and now by the RSRT in US. In addition, many neuroscientists find that Mecp2 plays a fundamental role in brain function and its study may have broader implications than Rett syndrome. In Europe the animal models that are used to screen drugs for potential use in Rett syndrome are zebrafish, mice and rats, in China they also use apes
Databases will be very important in the future as we move towards clinical trials as will parent associations.
How to participate in clinical trials? Unfortunately to date, participation in the trials is decided by several criteria. First is the proximity of the trial to the parents because most trials require several visits to a specialized center. Then there are a number of inclusion criteria such as age, a mutation in the Mecp2 gene, and disorders that correspond to the problems being addressed. This may unfortunately limit the parents’ willingness to participate in these trials.
There were also questions about the use of Cannabis. Cannabis is not appropriate because of the side-effects but a derivate, Cannabidivarin, can have an effect on epilepsy without side-effects.

Besides a very interesting conference, the discussions we had alongside the conference with the French Rett Centre and with the Genetic lab of Inserm offered a lot of new opportunities to work together.
In France the lab of Marseille have proposed for a number of years a workshop named “All researchers”, this enables the parents to see in the labs, to experience it and to understand Rett syndrome better. This is financially supported by the French Rett Association. We are looking with Jean-Christophe Roux to the possibility of organising this also for international representants or interested parents in Europe. For more information: https://www.grandluminy.com/fr/content/stage-tous-chercheurs

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