England to start screening newborns for rare disease SMA
A national newborn screening programme for spinal muscular atrophy (SMA) will be rolled out in England, to give babies the best chance of getting treatment before symptoms appear.
The rare but serious genetic disorder – thrust into the spotlight by Little Mix singer Jesy Nelson, who has twin girls diagnosed with SMA – causes muscle weakness and can leave babies unable to sit up, crawl or walk. In severe forms, it can affect muscles used to swallow and breathe.
The UK has approved three disease-modifying medicines for SMA, including Biogen's Spinraza (nusinersen), Roche's Evrysdi (risdiplam), which have to be dosed chronically, and Novartis' one-shot gene therapy Zolgensma (onasemnogene abeparvovec), which are all covered for use by the NHS in England and can have a dramatic impact on the course of the disease.
There is already screening for SMA in babies in Scotland, using a simple heel-prick blood test shortly after birth, and limited access to screening in England. Without newborn screening, diagnosis often comes only after symptoms have developed, by which time irreversible loss of motor neurons has already occurred.
The national screening programme in England will start in October, meaning that, within a year, every newborn baby in England will have access to screening regardless of where they are born, and the Department of Health and Social Care (DHSC) said that "hundreds of thousands of babies will be screened thanks to the expansion of the scheme."
"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," said Nelson.
"his 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," she added.
The decision to roll out the screening programme in England comes just a few weeks after reimbursement authority NICE extended NHS coverage of Evrysdi and Spinraza to include hundreds more children with the disease. Meanwhile, Zolgensma has been available for a number of years for treating babies aged up to 12 months with type 1 SMA and pre-symptomatic infants with up to three copies of the SMN2 gene.
Approximately four babies are born with SMA every month in the UK, with around 60% diagnosed with type 1, the most severe form of the condition.
"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," commented Giles Lomax, chief executive of the SMA UK charity.
"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."
