It is a very sad paradox: France was a pioneer by collaborating in the development of a gene therapy against spinal muscular atrophy, but this rare disease continues to kill.
Without early enough diagnosis, children carrying the mutation are identified too late to be treated.
However, the situation could soon change.
In any case, this is what the AFM-Téléthon, promoter of Dépisma, hopes for, an experiment which will make it possible to offer parents screening for the disease from birth.
This project will be deployed by autumn in the Grand Est and Nouvelle-Aquitaine regions.
An extension to the whole territory could be envisaged according to the results of this study.
Belgium and Germany have already deployed this screening, as have 23 American states.
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Dépisma provides a simple way to expand neonatal screening as it exists for other pathologies...
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