The study, titled SENS (Service Evaluation for Newborn Screening for SMA), will assess the feasibility, acceptability, clinical effectiveness and cost-effectiveness of introducing SMA screening into the NHS newborn screening programme. The study is expected to begin in August 2026.
Led by Professor Laurent Servais in the Department of Paediatrics at the University of Oxford, the study will involve collaboration across leading UK universities, NHS laboratories, and patient organisations, including SMA UK. The programme is designed to screen up to 755,000 newborns across England and generate the robust evidence required to inform national policy decisions.
SMA is a rare but severe genetic condition that leads to progressive muscle weakness and can be life-threatening in infancy. While new disease-modifying therapies are now available in the UK, their effectiveness depends critically on early, pre-symptomatic treatment.
Newborn screening enables diagnosis shortly after birth, before symptoms appear, allowing timely intervention that can dramatically improve outcomes, including survival, mobility and quality of life.
Professor Laurent Servais, lead investigator, 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.”
The SENS study will be delivered across seven NHS newborn screening laboratories, covering approximately two-thirds of births in England. Screening will be introduced using a phased, stepped approach, enabling researchers to compare outcomes between screened and unscreened populations while building real-world evidence on delivery within the NHS.
The research will evaluate:
- Feasibility: including test accuracy, turnaround times, and uptake
- Acceptability: capturing perspectives from families, healthcare professionals and the wider public
- Clinical outcomes: including early treatment initiation and motor development milestones
- Economic impact: assessing long-term value for the NHS
The findings will directly inform decisions by the UK National Screening Committee and NHS England on whether to implement SMA screening as part of the routine newborn blood spot programme.
Evidence from international programmes and UK pilot studies indicate that newborn screening for SMA is not only clinically beneficial but also cost-effective, reducing long-term healthcare costs through earlier intervention and improved outcomes.
This large-scale evaluation will provide the comprehensive UK-specific evidence required to support equitable, nationwide implementation ensuring that all newborns can benefit from advances in genomic medicine.
Giles Lomax, co-applicant and 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.”
The seven NHS newborn screening laboratories involved in the study are:
- Great Ormond Street Hospital (GOSH)
- Manchester
- Newcastle
- Sheffield
- South East Thames (Guy’s and St Thomas’ NHS Foundation Trust)
- South West Thames
- Birmingham (added as the seventh centre, with implementation capability from 2026)
These laboratories form the backbone of the study’s national infrastructure, collectively covering roughly two-thirds of births in England and enabling phased rollout of SMA screening within the NHS.
The study reflects a broader shift towards integrating genomic technologies into population health programmes. By embedding SMA screening within the existing NHS newborn screening infrastructure, the project aims to establish a scalable model for the introduction of additional conditions in the future.
Final results from the study are expected in 2031 and will play a critical role in shaping the future of newborn screening policy in the UK.