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Jun 16, 2022

Newborn screening pilot studies for SMA starting in France

The AFM-Téléthon, the University Hospitals of Strasbourg, and the Center Hospitalier Universitaire de Bordeaux are launching a pilot project called DEPISMA for neonatal genetic screening for spinal muscular atrophy (SMA) in the Grand-Est and in Nouvelle-Aquitaine regions of France, in collaboration with the regional health agencies. The first babies to be screened for SMA will be in September 2022.

Currently, France only screens for 6 diseases using biochemical methods. After a revision of the French bioethics laws in August 2021, newborn screening using genetic screening is now possible.

The SMA NBS Alliance welcomes this development and would like to congratulate the AFM-Téléthon for their efforts in making these pilot programmes possible. Hopefully, this is the next step toward nationwide newborn screening for SMA in France, as is the case in countries like Norway, Germany, and the Netherlands.

Learn more:


AFM-Telethon video of baby detected by NBS and treated early (in French)