A cure for a deadly spinal condition will be issued on the NHS after breakthrough gene therapy costing £1.8 million is approved today for infants before symptoms start
A miracle cure for a deadly spinal condition is being rolled out on the NHS amid growing calls for the government to urgently approve checks for all babies at birth.
The breakthrough gene therapy Zolgensma, costing £1.8 million per treatment, has today been approved by NICE for infants before symptoms start and irreversible disability is caused.
However, the UK’s newborn heel prick test still doesn’t check for spinal muscular atrophy (SMA), which results in muscle weakness, loss of movement, difficulty breathing – and a life expectancy of just two years without treatment.
Until this is the case, only babies with a family history of SMA will be monitored, and those diagnosed later after symptoms begin will remain paralyzed before treatment begins.
A baby is born with SMA every five days in the UK.
Nine months ago, The Mirror reported how Arthur Morgan became the first baby in England to have Zolgensma when he was four months old.
One of the leading UK experts on childhood neuromuscular disorders, Prof Laurent Servais, from the University of Oxford, said: “I have seen too many families devastated by this disease.
“But we now have treatment options. Waiting for the onset of symptoms is too late.
“Every day we delay in finding and treating these babies, we could be responsible for a child who spends their life in a wheelchair.
“Diagnosis of SMA through newborn screening is imperative to help detect and pre-symptomatically treat the disease.
“Then we have more potential to transform the lives of babies with SMA and their families.”
The UK National Screening Committee, which advises ministers, began deliberating in 2018 about adding SMA to the heel prick test. There was no treatment then.
The NICE decision came after a cost-effectiveness analysis showed that the lifetime cost of treating babies paralyzed by SMA was more than £60 million.
Until now, the one-off treatment that addresses the genetic cause of the condition has been given to a few patients on an experimental basis, but now NICE has approved it for widespread rollout.
SMA damages the neurons in the spinal cord and symptoms usually begin with muscle weakness in the first six months.
Babies cannot sit without support and may be described by medical professionals as “non-sitters”.
During this period before diagnosis, devastating damage is done to the child caused by the malfunctioning SMN1 gene.
Zolgensma uses harmless, genetically engineered viruses to increase SMN protein levels and prevent damage.
Imran Kausar, General Manager at Novartis Gene Therapies UK, commented: “Infants with SMA experience an irreversible loss of motor neurons, which significantly affects their survival and affects their quality of life.
“Zolgensma will be the first treatment routinely performed for presymptomatic babies in England, and as it is imperative to diagnose SMA and start treatment as early as possible, we welcome NICE’s decision for this recommendation.”
The government is currently looking at what conditions the NHS screens for inclusion in the heel prick test at five days old.
The National Screening Committee advises ministers and the NHS is accountable to the four Chief Medical Officers (CMOs), including Sir Chris Whitty.
The heel prick test, also known as newborn blood spot screening, currently checks for nine rare but extremely serious health problems for which early diagnosis can have a major impact.
In many European countries, the heel prick is tested for more than 30 deadly conditions.
In the heel prick test, an NHS doctor takes four drops of blood onto a special card.
This is then currently used to check for sickle cell disease, cystic fibrosis, congenital hypothyroidism and six rare inherited metabolic diseases.
Zolgensma has been described as the “world’s most expensive drug” with a list price of £1.8 million per treatment.
However, the NHS has negotiated a confidential deal with the manufacturer, with the price likely to be lower.
Under the original NICE guidelines, published in March 2021, Zolgensma, also called onasemnogene abeparvovec, was recommended for infants before they develop symptoms of SMA as part of a managed access agreement (MAA).
It meant some babies could get it as part of a clinical trial.
It is now becoming the routine treatment for all babies under 12 months diagnosed with SMA.
It was previously available for babies with the type 1 form of SMA – one of the most serious forms.
A statement from NICE said: “Because of the amount of health benefits it provides, the independent committee agreed that it is a cost-effective use of NHS resources for a treatment of a very rare condition.”