SMA Europe is working with all stakeholders to advocate for newborn screening (NBS) for spinal muscular atrophy.
A number of initiatives have been undertaken, notably:
This workshop which took place in May 2019. The aim of this workshop was to gather the available information on NBS technical, ethical, economical and practical aspects, and to identify the gap in current knowledge of patients identification and communication of diagnosis and treatment following NBS.
In order to advocate for newborn screening for SMA in Europe, SMA Europe founded this Alliance to bring together all stakeholders who share this vision and are willing to work together towards making it a reality.
The founding members of this Alliance include our 19 member national SMA patient organisations, EURORDIS, TREAT-NMD and the pharmaceutical companies Novartis Gene Therapies (AveXis), Biogen and Roche.
The Alliance’s main objectives are to decrease the time it takes for a child born with spinal muscular atrophy to be diagnosed through NBS and to assist patient advocacy groups in their efforts to accelerate the identification of such children, given that early diagnosis and treatment of spinal muscular atrophy leads to better outcomes.
Early detection and diagnosis may mean the difference between life and death for an infant with a severe form of SMA.
The Alliance demands that by 2025, newborn screening programmes in Europe include a test for SMA for all newborn children.
Alliance members will take part in a variety of activities including writing a white paper on Newborn Screening for SMA that collects the scientific evidence supporting why SMA needs to be included in the national newborn screening programmes.
Additionally, Alliance members are organising activities in their respective countries to request that health regulators evaluate adding SMA to newborn screening panels.