Newborn babies in England will be tested for spinal muscular atrophy (SMA) as part of a new five-year national trial examining whether the rare genetic condition should be added to routine newborn screening.
The study, led by Professor Laurent Servais, a paediatric neuromuscular disease specialist at the University of Oxford, will examine whether screening for SMA is effective, practical and cost-effective for the NHS.
The programme will begin with a phased rollout in Birmingham, Manchester and London before expanding nationally. It is expected to screen about 400,000 babies initially, with a full national rollout eventually reaching around 600,000 newborns each year.
Researchers expect the screening programme to identify about 60 babies with SMA annually. Children diagnosed through the programme will be followed for five years to assess their development, including when they learn to sit and walk, their quality of life and the level of care they require.
SMA is a rare genetic condition affecting about one in 10,000 people. It damages the motor neurons responsible for controlling movement and can cause muscle weakness.
In its most severe form, babies may initially appear healthy but can develop weakness, difficulty supporting their heads, breathing problems and problems swallowing within their first months of life. Without treatment, some children can die within their first few years.
Professor Servais said early diagnosis is important because once symptoms appear, some of the damage cannot be reversed.
The new screening programme follows a pilot study in the Thames Valley, which identified Teddy, a child from Chesham, with SMA when he was eight weeks old in 2023.
Teddy was diagnosed before he developed symptoms and was able to begin treatment quickly. He now takes the medicine Risdiplam every day and, at two and a half years old, is developing normally.
His parents, Hattie and James, said they had known very little about SMA before Teddy’s diagnosis and described the news as devastating. However, they were relieved that the condition had been detected before symptoms appeared.
The Thames Valley pilot screened more than 30,000 babies and Teddy was the only child identified with SMA.
SMA screening will be carried out using the existing NHS newborn blood spot test, commonly known as the heel-prick test. The test currently checks babies for 10 rare but serious health conditions.
Former Little Mix singer Jesy Nelson has also campaigned for newborns to be tested for SMA after her twin daughters were diagnosed with the condition at six months old.
Nelson said the introduction of newborn screening was a victory for families affected by SMA and could give future children a brighter start.
Researchers hope the national study will provide strong evidence about the medical benefits and potential cost savings of detecting SMA before symptoms develop.
