A £4 million NIHR-funded study will screen up to 755,000 babies across England for spinal muscular atrophy (SMA), with Warwick leading the critical work to ensure results reach families at the right time, in the right way.
Recently published work from Warwick, surveying over 9,500 people, found that over 90% support newborn screening for SMA. However, the research also revealed major concerns around anxiety and the psychological impact of a diagnosis, highlighting the importance of how and when results are communicated to families.
The new major study, titled SENS (Service Evaluation for Newborn Screening for SMA), will assess the acceptability, feasibility, clinical effectiveness, and cost-effectiveness of introducing SMA screening into the NHS newborn screening programme. The study is expected to begin in August 2026, with screening starting in October 2026.
Professor Felicity Boardman and Dr Corinna Clark from Warwick Medical School will lead the acceptability component in collaboration with Dr Jane Chudleigh at King's College London. Interviews with families who undergo screening, including those who receive a positive diagnosis, will generate evidence about how and when parents want results communicated to them. This evidence will directly inform national implementation and roll-out of the screening programme.
Professor Felicity Boardman said: "SMA screening has the power to transform lives. At Warwick, we've already been working with families affected by SMA, and we know that the way results are communicated, and the support available in that moment, is every bit as important as the test itself. This study gives us the opportunity to put families at the very heart of how national screening is designed and delivered."
SMA is a rare but severe genetic condition causing progressive muscle weakness that 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, making newborn screening a potentially life-changing intervention.
The study involves collaboration across the University of Oxford, University of Warwick, University of Sheffield, King's College London, NHS newborn screening laboratories, and patient charity SMA UK. Findings will inform the UK National Screening Committee's decision on whether to add SMA to the national programme.
Professor Laurent Servais, overall study lead from the University of Oxford, 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."
Giles Lomax, Chief Executive of the charity SMA UK, said: "For families affected by SMA, time is everything. A diagnosis through newborn screening can mean the difference between a life limited by severe disability and one with far greater independence and opportunity. This study brings us closer to a future where no child misses that critical window for treatment, and where screening is available to every newborn across the UK."
