Every newborn baby in England will be screened for spinal muscular atrophy (SMA), following the expansion of a pioneering University of Oxford-led pilot that introduced the country’s first routine test for the condition.
The national evaluation programme, announced by the government earlier this year and due to begin in October 2026, will now include all babies born in England. Originally designed to screen 755,000 newborns, the programme has been expanded so that every baby will be offered testing for SMA.
The nationwide roll-out builds on a study led by Professor Laurent Servais of the University of Oxford’s Department of Paediatrics. Supported by the NIHR Biomedical Research Centre (BRC): Oxford, the original pilot introduced England’s first routine newborn screening for SMA across four hospital trusts in the Thames Valley, including Oxford University Hospitals (OUH) NHS Foundation Trust.
SMA is a rare, but treatable, genetic disease affecting approximately one in 10,000 births, typically presenting in infancy and early childhood. It is caused when part of a gene, called survival motor neuron 1 (SMN1), is missing or disrupted. SMA progressively, and irreversibly, destroys the nerve cells in the brain and spinal cord that control movement, leading to progressive and irreversible muscle weakness.
The condition can begin in the first three months of a child’s life. In children with the most common and severe type of SMA, 95% of all motor neurons can be lost before the age of six months.
SMA can leave babies unable to sit up, crawl or walk. In the most severe cases, it stops them breathing or swallowing but if caught early enough, treatment can significantly improve outcomes for affected children.
Testing works through a simple heel prick to collect a small sample of blood from the baby, taken shortly after birth.
The announcement follows the news in May that the NIHR is investing £4 million in the University of Oxford-led SENS study (Service Evaluation for Newborn Screening for SMA), which 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 study marks a significant milestone which will bolster the evidence base that could pave the way towards national roll-out of SMA screening across the UK.
Professor Servais, lead investigator for the study whose research is supported by the BRC Oxford’s Genomic Medicine Theme, 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.”
Secretary of State for Health and Social Care, James Murray, said: “No parent should have to watch their child lose the ability to move or breathe, knowing that earlier treatment could have made all the difference.
“This expansion means babies across England will be tested from birth, giving them the best possible chance of a full and healthy life, and another step in the right direction as we do all we can to reduce health inequalities.
“I’m in awe of the campaigners who’ve worked tirelessly to raise awareness of this rare but very serious genetic condition. We’re moving faster and rolling screening out more widely to ensure children get the best treatment from the earliest possible moment.”
A similar testing programme has already been established in Scotland, drawing on funding from the private sector, and the Department of Health and Social Care will look to take a comparable approach in England, working collaboratively with partners to deliver the roll-out ahead of schedule.
Campaigner Jesy Nelson said: “Today is a day of hope. Knowing that future families will have access to early diagnosis and the opportunity for the best possible outcomes is something I’m incredibly proud to have supported. This is a victory for every family affected by SMA, whilst it can’t change the future of our children, I know it marks the beginning of a brighter future for future SMA families.”
Giles Lomax, Chief Executive Officer of Spinal Muscular Atrophy (SMA) said: ”After years of campaigning by the SMA Community and our partner organisations, this is a hugely important step forward. When newborn screening for SMA begins later this year, thousands of babies will benefit from earlier diagnosis and access to life-changing treatment.
“No family should face a postcode lottery when it comes to a condition where every day without treatment can lead to irreversible loss of motor neurons. We are incredibly grateful to the families, clinicians, researchers, supporters and campaigners who have helped us reach this point, and we look forward to the day when every newborn across the whole of the UK is offered this simple, life-changing test.”