New ground-breaking Oxford University research shows how national newborn screening could help to prevent children developing heartbreaking spinal muscular atrophy
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Every five days a potential tragedy occurs in one of the UK’s maternity units as a baby is born with spinal muscular atrophy (SMA).
It’s a tragedy waiting to happen because while treatments are available, they have to be given immediately after birth.
If they’re delayed because SMA isn’t diagnosed, the baby may survive, but is severely disabled.
Oxford University, by way of ground-breaking research, aims to put that right.
Staff plan to identify these children at birth so they can receive treatment that will prevent this heart-breaking disease from progressing.
It’s hoped that it’ll pave the way for a national newborn screening programme that will save about 70 babies a year from crippling disability.
SMA is a rare, but treatable, genetic disease affecting approximately one in 10,000 births.
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It is caused when part of a gene is missing (deletions) or disrupted (mutations).
This gene is called survival motor neuron 1 (SMN1), which is important to maintain motor neurons (nerve cells).
SMA progressively destroys the nerve cells in the brain and spinal cord that control movement.
This leads to irreversible muscle weakness which can begin within 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.
Most children with this type of SMA, if untreated, won’t survive beyond two years of age without permanent ventilator support.
Those who do survive won’t be able to sit or walk independently.
Oxford’s newborn screening study means SMA is picked up within days of birth, before symptoms develop, so any affected newborn can receive treatment at the earliest possible opportunity.
This will be done through the routine UK newborn blood spot screening.
Four hospital trusts in the Thames Valley will take part: Oxford University Hospitals, Royal Berkshire, Milton Keynes University Hospital and Buckinghamshire Healthcare.
The study, designed by Professor Laurent Servais and colleagues at Oxford University, will be run by the STRONG research group in the Department of Paediatrics.
“Four years ago, in Belgium, I started screening newborn babies for spinal muscle atrophy,” says Prof Servais.
“This early intervention has been extremely successful in identifying 15 patients and through the latest treatments we have positively changed their life outcomes.
“I am proud to say they are doing well.”
Professor Manu Vatish added: “The University of Oxford and John Radcliffe Hospital are delighted to be able to help Prof Servais identify these children so they can receive treatment that should stop this terrible disease progressing.”