Babies with rare muscle-wasting disease living longer thanks to treatment advances

Almost three-quarters of babies born with a rare muscle-wasting disease are living longer thanks to advances in NHS treatment.

Spinal muscular atrophy (SMA) is a genetic condition that causes muscle weakness, along with progressive loss of movement and paralysis.

There are three types of this disease that impact children. SMA1 manifests in babies under the age of six months and is the most severe, while SMA2 and SMA3 are less severe. They develop between the ages of seven and 18 months, and after 18 months of age, respectively. According to the NHS, about 70 babies are born in the UK with SMA each year.

The NHS began rolling out new treatments in 2019, starting with injectable drug nurinersen – marketed as Spinraza – which targets the SMN2 gene in patients. Before 2019 there were no effective drugs for this condition.

A study by SMA Reach UK claims patients with untreated SMA1 historically had a 50% survival probability at eight to 10 months, reducing to 8% at 20 months of age. However, data from the SMA Reach UK database analysed by NHS England found 73% of babies with SMA1 are now living beyond two years and without permanent ventilatory support.

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Source: Independent, 7 August 2023