Prof. Laurent Servais talks about the financial cost and quality of life of patients with SMA. He shows one family that had two children born with SMA, one was detected at birth through newborn screening and treated early, and the other child was diagnosed with SMA after symptoms already started. The positive outcomes of SMA newborn screening, in terms of impact on the children detected early, and the financial costs associated with lifelong disability are highlighted.

International Neonatal Screening Day (INSD) is an international initiative launched by the International Society for Neonatal Screening (ISNS), the International Patient Organisation for Primary Immunodeficiencies (IPOPI) and the European Society for Immunodeficiencies (ESID), working in partnership under the multi-stakeholder Screen4Rare platform to promote the importance of neonatal (newborn) screening.

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.

We are proud to announce that SMA Europe has officially joined the Screen4Rare platform as a Partner!