Around 750,000 newborns in England will be checked for spinal muscular atrophy (SMA) as part of a new study to assess whether screening should be included in post-birth baby checks for serious health conditions.
Pop star Jesy Nelson has campaigned for screening to be rolled out after her twins were diagnosed with the condition.
Now scientists at the University of Oxford are to assess the feasibility, acceptability, effectiveness and cost-effectiveness of adding SMA to the heel-prick blood test given to newborns.
Nelson’s twins, Ocean Jade and Story Monroe Nelson, were diagnosed with the genetic condition, which causes progressive muscle wastage, movement problems, issues with breathing and swallowing, muscle tremors, as well as bone and joint problems.
The singer has since dedicated herself to raising awareness of SMA and urged the Government to add the condition to the newborn blood spot screening test, as early treatment can help avoid some of its most devastating effects.
Screening is not currently available in England.
The new study, funded by the National Institute for Health and Care Research (NIHR), is expected to begin in August.
Led by Professor Laurent Servais in the Department of Paediatrics at the University of Oxford, the programme will screen up to 755,000 newborns across England.
Evidence gathered by the study will help inform decisions by the UK National Screening Committee.
Professor Servais 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 project will take place across seven NHS newborn screening laboratories, covering approximately two-thirds of births in England.
It will be introduced in a phased way, allowing researchers to compare outcomes between screened and unscreened babies.
Final results from the study are expected in 2031.
Giles Lomax, 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.”
Nelson revealed her daughters’ diagnosis in January and said it meant they are unlikely to be able to walk or regain their neck strength.
She has since been campaigning for SMA to be added to post-birth baby checks and launched a petition that has amassed more than 100,000 signatures.
Nelson met Health Secretary Wes Streeting and visited 10 Downing Street as part of her campaigning.
