Spinal Muscular Atrophy: Babies

On all aspects of population and targeted screening, Ministers are advised by the UK National Screening Committee (UK NSC).

The UK NSC recommended an in-service evaluation (ISE) of newborn blood spot screening for spinal muscular atrophy (SMA) in National Health Services in 2023. Since then, the SMA Newborn Screening ISE Partnership Board was set up to plan and develop work to shape the ISE, and progress is being made. This includes planning the duration of the ISE and planning for newborn laboratories to screen blood spot samples for SMA. The laboratories in England that will form part of the ISE are under consideration by the SMA partnership board led by NHS England. The researchers and the National Institute for Health and Research (NIHR) will be responsible for determining the number of babies and services that will be required to answer the research questions.

Earlier in the year, the NIHR published their Health Technology Assessment research brief to appoint researchers for this work. Applications closed at the end of September 2025, and final funding decisions are expected in spring 2026. A decision on the shape and roll out of the ISE will be made after the research call process has concluded.

A recommendation by the UK NSC on newborn screening for SMA is expected following the conclusion of an ISE, which is needed to answer several outstanding questions related to the implementation of a screening programme for SMA.