Hundreds of thousands of babies will be screened as part of a new NIHR-funded trial evaluating newborn screening for spinal muscular atrophy (SMA).
This marks a significant milestone which will bolster the evidence base that could pave the way towards national rollout of SMA screening across the UK.
The £4 million study, called SENS (Service Evaluation for Newborn Screening for SMA), is led by the University of Oxford. It will assess the feasibility, clinical effectiveness and cost-effectiveness of SMA screening in the NHS Newborn Blood Spot Screening Programme.
Experts are collaborating across leading UK universities, NHS laboratories, and patient organisations - including the charity SMA UK. The programme is designed to screen up to 755,000 newborns across England. The study is expected to begin in August 2026.
SMA is a rare but severe genetic condition. It leads to progressive muscle weakness and can be life threatening in infancy. New disease-modifying therapies are now available in the UK. But their effectiveness depends critically on early, pre-symptomatic treatment.
Newborn screening enables diagnosis shortly after birth, before symptoms appear. This allows timely intervention that can improve outcomes. This includes survival, mobility and quality of life.
Professor Laurent Servais in the Department of Paediatrics at the University of Oxford, is leading the study. He said: “This study represents a decisive step towards ensuring that every child born with SMA in the UK has the opportunity to be diagnosed and treated before irreversible damage occurs. We now have therapies that can fundamentally change the trajectory of this disease if we can identify affected infants early. Our goal is to provide the evidence needed to support the introduction of SMA into routine newborn screening nationwide, ensuring equitable access for all families.”
NIHR commissioned the study in partnership with the UK National Screening Committee (UK NSC). The independent scientific committee advises ministers and the NHS in the four UK countries about all aspects of screening and supports implementation of screening programmes. The team will test screening within real world health settings, in real time, helping to answer important evidence gaps through implementation.
The study will examine how a population-wide newborn programme for SMA could potentially work in practice and inform a recommendation on future roll-out of SMA screening. The research will be embedded in service delivery and aims to make a difference to real lives.
Professor Anthony Gordon, Director of NIHR’s Health Technology Assessment (HTA) Programme, which is funding the study, said: “This important trial will evaluate whether a screening programme can effectively speed up the detection of and improve health outcomes for babies with this rare, but life-threatening condition. Screening is crucial in supporting earlier detection and treatment of some conditions and is central to the government’s shift from sickness to prevention.”
The study will be delivered across seven NHS newborn screening laboratories. This covers approximately two-thirds of births in England. Screening will be introduced using a phased, stepped approach. All babies tested in these laboratories will be screened. The team will compare outcomes between screened and unscreened populations while building real-world evidence on delivery within the NHS.
Final results are expected in 2031. This will play a critical role in shaping the future of newborn screening policy in the UK.