It is a very sad paradox. France has pioneered the development of gene therapy for spinal muscular atrophy, but this rare disease continues to kill. Without early diagnosis, children with the mutation are found too late to be treated. However, the situation may change soon. In any case, this is what AFM-Téléthon, the promoter of Dépisma, hopes for, an experiment that will allow parents to offer screening for the disease at birth. This project will be implemented until the fall in the Grand East ու Nouvelle-Aquitaine areas. According to the results of this study, it is possible to envisage expansion throughout the territory. Belgium and Germany have already hosted the show, as have 23 US states. Quebec will implement it this summer, it is estimated in Australia and Japan.
Dépisma provides a simple way to enhance neonatal screening, as it exists in the case of other pathologies …
Source: Le Figaro