NHS drugs go-ahead offers lifeline to children with rare muscle-wasting disease | Children
Hundreds of children with a rare muscle-wasting disease will be able to receive two drugs that could improve their survival, in a move hailed as a “lifeline” by parents.
The National Institute for Health and Care Excellence (Nice) has published draft final guidance recommending that every patient who would benefit should receive both drugs.
The move means that anyone in England, Wales or Northern Ireland spinal muscular atrophy From Thursday he will be able to buy nusinersen, also known as Spinraza, or risdiplam, also known as Evrysdi, on the NHS.
SMA is a progressive genetic disease that causes severe muscle weakness and can affect the ability to move, breathe and swallow. Untreated patients face devastating consequences, including severe disability and reduced life expectancy. Children with type 1, the most severe form of SMA, usually die before they reach two.
Prof James Palmer, NHS England’s national medical director for special services, said: “These lifeline treatments have made a remarkable step forward in the care of children and families affected by such a debilitating condition and it is great that they are available on the NHS for the long term.
“Parents who have gone through the unimaginable pain of thinking their child will not make it to their second birthday now have hope of seeing them walk to school and play with their friends, thanks to these life-changing new therapies.”
There are thought to be around 1,150 people with SMA in England under the age of 18, and between 1,500 and 2,500 people of all ages across the UK. An estimated 70 babies are born with SMA each year in the UK.
Portia Thorman said her nine-year-old son Ezra’s life changed after he received nusinersen when he was just five months old.
He added: “What difference would it make? He’s alive. If it wasn’t for him he would have died when he was two. He was one of the first people in the UK to get the drug. It was a huge deal. It was literally a lifeline for him.”
“For example, in the first 3 years of his life, we were in and out of intensive care whenever he had a cold. But now, when he has a cold, we stay at home because the medication stopped the progression of his disease.”
Ezra currently attends primary school in Ramsgate, Kent.
“Starting mainstream school was a milestone that Ezra was once told he would never reach,” his mother said. “He was diagnosed with SMA type 1 in 2016 and had a life expectancy of less than two years. Accessing treatment when he was just five months old fundamentally changed the course of his life.”
SMA gained a high profile after former Little Mix singer Jesy Nelson announced the birth of her twin daughters in May 2025. there is a condition.
It is campaigning for all newborn babies to be screened for SMA as part of routine heel prick testing. Scientists from Oxford University are assessing the feasibility and cost of doing this.
The NHS in England plans to launch an “in-service review” of newborn screening in October, which could pave the way for it to become part of newborn care.
Nusinersen is administered as a regular injection into the patient’s spinal fluid, while risdiplam is taken every day at home in syrup or tablet form. The drugs have been available on a limited basis since 2019 and 2021, respectively.
NHS England has struck a price deal with their manufacturers, Biogen (nusinersen) and Roche Pharmaceuticals (risdiplam), to make them routinely available to anyone who would benefit from them.
Helen Knight, Nice’s director of drug evaluation, said independent experts had assessed the evidence and decided the drugs “could offer significant, life-changing benefits for many people with SMA”. He added: “These treatments can help people live longer, maintain their independence, communication and participation in daily life, and reduce the need for hospital care.”
Giles Lomax, CEO SMA UKHe said: “This is a historic moment for the SMA community. After years of uncertainty, people can finally be confident that these treatments will be available on the NHS.”
