RJAH supports landmark launch of newborn screening for spinal muscular atrophy

The Robert Jones and Agnes Hunt Orthopaedic Hospital (RJAH) is playing a key role in a landmark NHS evaluation of newborn screening for spinal muscular atrophy (SMA), which begins in England today (1 October 2026).

The NHS evaluation, known as an in-service evaluation, will use the routine newborn blood spot, or heel-prick, test to screen babies for SMA in participating areas.

SMA is a rare inherited condition affecting the nerves that control muscles. It causes progressive muscle weakness and can affect movement, breathing and swallowing. Identifying babies who may have the condition shortly after birth is crucial because treatment is most effective when it begins before symptoms develop.

The evaluation is being introduced progressively through seven newborn screening laboratories in England from October 2026. Birmingham is the first laboratory to go live today, serving families across the West Midlands.

The remaining six English laboratories are expected to join from October 2027, giving every newborn baby in England access to SMA screening.

RJAH will work together with Birmingham Heartlands Hospital (the other West Midlands site) to provide the specialist clinical pathway across the West Midlands for babies whose screening result suggests they may have SMA.

Depending on where a baby is born, the relevant specialist team will arrange an urgent assessment, confirmatory tests and consideration of the most appropriate treatment and ongoing care.

Professor Tracey Willis, Consultant Paediatric Neurologist at RJAH, said: “This is a major step forward for babies and families affected by spinal muscular atrophy.

“With SMA, every day matters. Screening gives us the opportunity to identify babies who may have SMA before symptoms develop and connect them quickly with specialist assessment and, where appropriate, treatment.

“At RJAH, we are working closely with colleagues across the West Midlands and the national SMA REACH UK team to ensure there is a safe, responsive pathway in place for any baby referred to us. Our teams are proud to be contributing their specialist expertise to this important national evaluation.”

Louie Myatt, from Cannock, is one patient to have benefitted from treatment for SMA, having come under Professor Willis’ care after eight weeks of age. Whilst he was not treated before symptom onset, he was treated early and given gene therapy and is now progressing well at 17 months old.

His mum, Maria O’Malley, said: “Louie is a happy little boy, and early detection of his condition has enabled him to have the best possible chance of continuing to thrive. It’s so good to see that this newborn screening programme has been launched, and I am so happy that it will change lives for the better over the coming years.”

The national evaluation will examine whether screening for SMA is feasible, acceptable, effective and cost-effective within NHS services. Its findings will inform a future recommendation by the UK National Screening Committee on whether and how SMA screening should continue as part of the NHS Newborn Blood Spot Screening Programme.

Parents in participating areas will be offered information about SMA screening when their baby has the routine newborn blood spot test, usually when they are around five days old. With parental consent, the same blood sample will also be screened for SMA, so no additional heel-prick test is needed. Families with questions should speak to their midwife or maternity team.

Pictured: Louie Myatt, from Cannock, who was diagnosed with SMA at eight weeks of age but has responded well to treatment and is now thriving at 17 months.