New spinal muscular atrophy treatments are extending survival for babies

The roll out of three “transformative” new medicines has significantly reduced the number of babies dying from spinal muscular atrophy (SMA) – a rare muscle-wasting disease.

New data from the national SMA Research and Clinical Hub (SMA REACH UK) database has revealed there have been just 11 deaths in the UK over the last five years, compared to around 25 deaths each year in England between 2008-2017.

This means that now, three in four (73%) babies born with SMA are surviving for two years or more without permanent ventilatory support. Before treatments were available, less than one in 10 (8%) children with SMA type 1 survived to the age of 20 months without permanent ventilatory support.

Which treatments are now available to treat SMA?

In the summer of 2019, NHS England rolled out the first treatment to target the underlying cause of SMA.

Nusinersen (Spinraza) is an injectable drug that is delivered directly to the central nervous system (CNS) where motor neuron loss begins. After four initial loading doses, nusinersen is given three times a year.

One trial showed that people with later-onset SMA showed meaningful improvements in overall motor function as measured by Hammersmith Functional Motor Scale compared to placebo at 15 months.

Then, in 2021, NHS England rolled the gene therapy Zolgensma and the oral treatment risdiplam. These treatments are available to 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.

One father, whose daughter Hidaya has SMA type 1, says these new treatments have been “absolutely life-changing.”

“We have seen the effects of the condition in our family, and it really is the difference between life and death. My daughter wouldn’t be here without the treatments, it really is as simple as that,” said Hidaya’s father, Nasser.

New SMA treatments making a “real difference for families”

NHS chief executive, Amanda Pritchard, said she hopes that outcomes for children with SMA “will continue to improve in the coming years.”

She 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.”