Mother holding baby's hand

New gene therapy launches in the UK

Baby Arthur becomes one of the first children to benefit from the landmark SMA treatment after NHS launch

A new, life-saving gene therapy has started being rolled out in the NHS, after it was approved back in March.

The treatment is for spinal muscular atrophy (SMA) – a serious genetic condition affecting the motor neurones that control muscles. Children with the most severe form, SMA1, do not typically survive beyond two years of age without treatment.

“Spinal muscular atrophy is the leading genetic cause of death among babies and young children, which is why NHS England has moved mountains to make this treatment available,” said NHS England chief executive Simon Stevens, at the time NICE approved the treatment.

Onasemnogene abeparvovec (trade name: Zolgensma) is the most expensive treatment ever approved by NICE, but it requires only one dose and is expected to dramatically improve the length and quality of life of infants affected by SMA1.

It is the first licensed treatment to address the root genetic cause of SMA, which is a lack of a working copy of a gene called SMN1. The treatment uses a harmless virus shell to deliver a working copy of the SMN1 gene into the cells, allowing them to function normally. More information about how Zolgensma works can be found here.

Lives transformed

According to records from the national multidisciplinary team overseeing the rollout, two children have been given the treatment so far. It is expected that around 80 children per year may be eligible in the future.

One family, who were treated at the Evelina Hospital in London, have spoken to the BBC this week. Their baby, Arthur, is five months old and was only diagnosed with SMA a few weeks ago. He already has difficulty moving his limbs and cannot lift his head, but the treatment will hopefully stop further progression of the disease, and should allow him to continue breathing unassisted and meet developmental milestones.

A recent study published in Jama Neurology followed up children who had the treatment as part of clinical trials up to six years ago. Of 10 children who received the recommended dose, all are alive, and none require permanent ventilation.

The trial also showed that the earlier in disease progression the treatment is administered, the better the results. The two participants who had the treatment before three months of age were able to sit unassisted at the same age as healthy children.

Newborn screening

The availability of the treatment has revived calls to include SMA in the newborn blood spot screening test, which currently screens for nine rare but serious health conditions.

SMA UK said: “The earlier Zolgensma is given for SMA the better, with pre-symptomatic treatment shown to give the very best possible outcomes. Early diagnosis and treatment is vital. We need newborn screening for SMA to be introduced in the UK so that our children have this and other drug treatment opportunities for their futures.”

When approving the treatment, the NICE committee said that “for some babies who are diagnosed before they have symptoms, it might come close to being a cure,” but they did not make recommendations about how asymptomatic children should be identified.

Follow this blog for further updates about Zolgensma as the treatment continues to be rolled out across the country.

Please note: This article is for informational or educational purposes, and does not substitute professional medical advice