Hundreds more children with muscle-wasting condition spinal muscular atrophy (SMA) are to be offered potentially “life-changing” therapy on the NHS which could help them live years longer and attend primary school.
From today, 2 innovative treatments for SMA – nusinersen and risdiplam – will be made routinely available on the NHS in England following an access scheme to collect more evidence, giving hundreds of families long term-certainty.
NHS England today announced it had secured a commercial agreement to ensure lifelong treatment for anyone eligible, as landmark new data from the SMA REACH UK study found the therapies have now helped 73 children with the severe form of SMA (Type 1) survive to aged 5 or older – more than half of those treated.
Type 1 SMA is typically diagnosed in babies less than 6 months old, and left untreated, the condition is usually fatal before the age of 2.
One mum said her 9-year-old son’s treatment with nusinersen had “fundamentally changed the course of his life”, having been on the treatment since he was a baby.
Nusinersen (Spinraza®, Biogen) and is given as a regular injection into spinal fluid, while risdiplam (Evrysdi®, Roche) is provided as a daily syrup or tablet that can be taken at home.
The NHS in England has offered nusinersen – the first-ever disease-modifying therapy – since May 2019 and oral therapy risdiplam since 2021, under time-limited schemes, while evidence of their benefits was collected.
Ezra Thorman, now 9, started treatment with nusinersen at just 5 months old through an early access programme, following his diagnosis with SMA Type 1 nearly a decade ago in 2016.
Ezra is now in Year 4 at school in Ramsgate, Kent, and thanks to early intervention treatment, he is able to enjoy learning and participate fully with other children his age.
Ezra’s Mum, Portia Thorman said: “Starting mainstream school is a milestone we were once told Ezra would never reach. His SMA Type 1 diagnosis in 2016, came with a life expectancy of under 2 years old.
“The hope for a future this bright felt out of reach, however, accessing treatment at just 5 months old fundamentally changed the course of his life.”
SMA is a rare, genetic condition that causes progressive muscle weakness and loss of movement and can affect a child’s ability to breathe and swallow.
SMA is often grouped into types, based on the age that symptoms begin and how they affect sitting, standing and walking:
- Type 1: babies less than 6 months old
- Type 2: babies and toddlers aged 6 to 17 months old
- Type 3: children and teenagers from 18 months to 17 years old
- Type 4: adults 18 years old and over
It is estimated that approximately 70 babies are born with SMA each year in the UK, and that there are around 1,150 people living with SMA types 1, 2 or 3 in England.
Evidence collected over the past 7 years showed access to treatment has transformed the experience of SMA for children and families, with children living longer and reaching milestones that may previously not have been possible – such as sitting, standing, walking and starting school.
Professor James Palmer, National Medical Director for Specialised Services at NHS England, said: “These lifeline treatments have offered a phenomenal step forward in care for children and families affected by such a debilitating condition, and it is fantastic that they will now be available on the NHS in the long-term.
“For parents who faced the unimaginable pain of thinking their child would not reach their second birthday, they now have hope of seeing them walk to school and play with their friends, thanks to these life-changing new therapies on the NHS.
“We’re delighted that more families will now get to experience precious moments like this – but there is so much more to do for those affected by SMA and we hope outcomes will continue to improve for children and adults in the coming years.”
Today’s announcement means that nusinersen, risdiplam and the ‘one-shot’ gene therapy, Zolgensma® are all routinely commissioned by the NHS in England.
Data from the national SMA Research and Clinical Hub (SMA REACH UK) database also shows that in total, more than 350 people with SMA receiving treatment are aged 5 years or older – 107 of whom have been treated with nusinersen, 200 with risdiplam and 45 with Zolgensma.
Public Health Minister, Sharon Hodgson said: “Spinal muscular atrophy can have a profound impact on every aspect of a person’s life, particularly for children and young people.
“Today’s draft guidance is welcome news for families across the country and represents an important milestone in improving access to innovative NHS treatments for rare diseases.
“Drawing on both clinical evidence and the real-world experiences of patients already receiving treatment, this decision will help ensure more people with SMA can access the care and support they need to live fuller, more independent lives.”
SMA UK CEO, Giles Lomax said: “This is a historic moment for the SMA community and follows many years of determined campaigning by patients, families, clinicians, charities and wider stakeholders to secure long-term access to these life-changing treatments.
“Since disease-modifying therapies first became available, the SMA community has worked tirelessly to ensure decision-makers understood both the realities of living with SMA and the transformative impact treatment can have. After years of uncertainty, people can finally feel confident that nusinersen and risdiplam will remain available on the NHS.
“We know these treatments have helped many people maintain or improve muscle strength, respiratory health, independence and overall quality of life, while also reducing complications and care needs for some families. This decision reflects the strength of patient voices and the power of lived experience in shaping healthcare decisions.”
As part of the agreement negotiated by NHS England – a new dose of nusinersen approved by the MHRA just last month and which enables patients to have fewer injections – will also be available on the NHS.
The new type of treatment halves the number of doses required when a patient starts treatment from 4 to 2 injections, before moving to a maintenance dose of 1 injection every 4 months.
Kylie Bromley, General Manager and Managing Director of Biogen, United Kingdom & Ireland said: “Biogen welcomes NICE’s decision to recommend nusinersen (12 mg) and the high dose regimen (50/28 mg) of nusinersen for the treatment of 5q spinal muscular atrophy (SMA) for all symptomatic patient types and pre-symptomatic individuals in the NHS. We are delighted by this significant outcome as it expands access to the treatment beyond what was previously available on the NHS.
“We are grateful to the SMA community for their extensive contributions to the appraisal; this achievement is testament to the commitment and expertise of patients, families and clinicians.”
Gwyn Jones, neuromuscular lead, Roche Products Limited said: “We are delighted that NICE has made this positive recommendation for Evrysdi (risdiplam), which will now provide routine, long-term access for people living with spinal muscular atrophy (SMA) in England, Wales and Northern Ireland.
“We are grateful for the collaboration of NICE, NHS England and SMA REACH, and in particular for the support of the SMA community; by helping the committee to understand the true impact of treatment, beyond clinical trial data, they have helped ensure that this oral medicine will now be routinely and permanently available across the UK. This is a significant milestone for patients and their families.”
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