NHS offers £1.8 million drug to cure babies of spinal conditions that can kill babies before they turn two
- About 65 babies born each year in England have spinal muscular atrophy
- Disease causes muscle weakness, paralysis and difficulty breathing
Babies born with a genetic disease leading to a life expectancy of just two years without intervention will now be cured by the NHS with a new £1.8 million drug.
Babies with severe spinal muscular atrophy (SMA), which causes muscle weakness and leads to paralysis and breathing problems, can now take the gene therapy drug Zolgensma.
Treatment watchdog The National Institute for Health and Care Excellence (Nice) has approved the use of onasemnogene abeparvovec, better known by its brand name.
About 65 babies born each year in England have spinal muscular atrophy, the leading genetic cause of death in children.
The disease causes a defect in a gene called SMN1, which makes essential proteins that allow the spinal nerves in the spinal cord to control the movement of muscles.
Then five-month-old Arthur Morgan with his father Reece Morgan in June 2021 after becoming the first patient in England to undergo gene therapy with Zolgensma
The most severe form of the condition, type 1 SMA, can develop in babies as young as six months old — with a 90 percent chance of dying before they’re two years old if left untreated, The Times reports.
But Zolgensma has been proven in studies to help patients sit, crawl and walk – something they normally could never do – and also prevents them from being put on a ventilator.
The single infusion, given in just an hour, uses a harmless virus to deliver a healthy version of the SMN1 gene.
It passes into the nerve cells to replace the faulty gene and restore normal function, allowing the baby to live a healthy life with minimal symptoms.
It comes after year-old Edward Willis-Hall was given the drug and then took his first assisted steps earlier this year in January.
His mother Megan Willis, 30, spoke of her joy after her son reached milestones she never thought possible.
He can roll over, sit up, stand for five minutes in gaiters that support his legs, and take steps in a harness.
She told the BBC: ‘We are so proud of Edward. He’s doing incredibly well. He far exceeds our expectations. We are so incredibly lucky.’
Ms. Willis, who was told her son had spinal muscular atrophy when he was seven weeks old, set a goal for him to sit unassisted. She said, “All I ever wanted was for him to sit and I knew he’d have a great life.”
Nice has said buying the drug is a “cost-effective” use of resources.
Currently, only babies with a family history of SMA are tested.
The single infusion, given in just an hour, uses a harmless virus to deliver a healthy version of the SMN1 gene
But campaigners are pushing for all five-day-old babies to undergo checkups that diagnose nine conditions.
Laurent Servais, professor of neuromuscular disorders in children at the University of Oxford, said: ‘I’ve seen too many families devastated by this disease, but we now have treatment options.
“But waiting for symptoms to start is still too late. Every day we delay finding and treating these babies, we could be responsible for a child spending their life in a wheelchair.
“There is 100 per cent consensus among British experts, among world experts, among patients: we need to screen to save lives, we need to screen to save quality of life and we need to screen to save money.”