Nearly three in four babies born with a rare muscle-wasting disease are now surviving for two years or more thanks to advances in NHS treatment, new data shows.
Around 70 children are born with spinal muscular atrophy (SMA) each year in the UK, a rare genetic condition that causes muscle weakness, progressive loss of movement and paralysis.
Historical studies of the disease in the US have estimated that before the availability of treatments, fewer than one in ten (8%) children born with SMA type 1 (SMA1) - the most common form of the condition - survived to the age of 20 months without permanent ventilatory support.
But thanks to advances in treatment on the NHS, now nearly three quarters (73%) of children with SMA1 in the UK are older than two years, according to new data from the national SMA Research and Clinical Hub (SMA REACH UK) database.
The SMA REACH UK study also suggests a significant reduction in deaths from SMA1 in this country, with just 11 deaths in total recorded across the UK between March 2018-March 2023 - compared to around 25 deaths each year in England between 2008-2017, according to ONS data.
This follows the roll-out of three “transformative” new SMA medicines on the NHS from 2019, with the health service striking landmark commercial deals to secure access for SMA patients across the country.
NHS chief executive, Amanda Pritchard, said:
“It's fantastic to see that more and more children diagnosed with this debilitating condition are living longer and with greater independence, thanks to cutting-edge treatments now available on the NHS.
“Before 2019 there were no effective drugs for this condition - and, while there is so much still to do, we're delighted that access to these new and transformative treatments through the NHS is already making a real difference for families, enabling more babies to stand up and take steps.
“This is yet another example of the NHS leading the way in securing access to innovative treatments for those with rare genetic conditions while delivering value for the taxpayer - and with the expertise of our phenomenal paediatricians and wider specialists, we hope that outcomes for children born with SMA will continue to improve in the coming years.”
The data extracted from the SMA REACH UK database at the end of 2022, showed that 118 out of 161 patients with SMA1 in November 2022 were over the age of two years old and living without permanent ventilatory support, with many more children in the database who were under two years old at the time, now expected to have survived beyond that milestone.
The data predominantly demonstrates the initial impact of injectable drug nurinersen (Spinraza®) - the first treatment to target the underlying cause of SMA - which was made available on the NHS in England from Summer 2019.
With gene therapy Zolgensma® and oral treatment risdiplam secured in 2021, the NHS has ensured access to treatment for patients with types 1, 2 and 3 SMA, and it is hoped all three treatments will continue to deliver improved outcomes as more data is collected.
A study recently published in Muscle & Nerve journal has also shown promising results of the impact of nurinersen on improving children's quality of life, with all children in the (NURTURE) study who started treatment before their symptoms still being alive five years later, and more than 90% walking independently.
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