New NHS Treatments Helping Extend Survival for Babies with Rare Muscle-wasting Disease

Rare Daily Staff

Nearly three in four babies born with the rare, neuromuscular disease spinal muscular atrophy are now surviving for two years or more thanks to advances in the United Kingdom’s National Health Service, according to new data.

Around 70 children are born with spinal muscular atrophy (SMA) each year in the United Kingdom. The condition causes muscle weakness, progressive loss of movement, and paralysis.

Spinal muscular atrophy (SMA) is a rare, genetic disease and a leading genetic cause of infant death. It is caused by the lack of a functional SMN1 gene. The most severe forms of SMA result in the rapid and irreversible loss of motor neurons, affecting muscle functions including breathing, swallowing, and basic movement. Severity varies across a spectrum of types corresponding to the number of copies of the back-up SMN2 gene. The majority of patients with two copies of SMN2 develop Type 1, the most common form accounting for 60 percent of cases. Type 1 is severe and, if left untreated, leads to death or the need for permanent ventilation by the age of two in more than 90 percent of cases.

The NHS said thanks to new treatments, now nearly three quarters (73 percent) of children with SMA1 in the United Kingdom are older than two years, according to new data from the national SMA Research and Clinical Hub 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 United Kingdom between March 2018 to March 2023. That compares to around 25 deaths each year in England between 2008 to 2017.

The change in outcomes follows the roll-out of three 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. The data predominantly demonstrates the initial impact of injectable drug Spinraza, the first treatment to target the underlying cause of SMA, which was made available through 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.

“We know that the three treatments available through NHS have transformative effects across the SMA community from newly diagnosed children through to adults living with SMA,” said Giles Lomax, CEO, Spinal Muscular Atrophy UK. “However, early access to these treatments is imperative to prevent irreversible muscle degeneration and that’s why SMA UK are advocating for SMA to be included on the newborn screening program. One baby every five days is born with SMA and the sooner they receive treatment the sooner their condition will stabilize.”