Zolgensma gene therapy for SMA now routinely accessible in UK

New NICE recommendations allow therapy for all presymptomatic babies

Lindsey Shapiro, PhD avatar

by Lindsey Shapiro, PhD |

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The one-time gene therapy Zolgensma (onasemnogene abeparvovec) will now be routinely accessible at low or no cost to presymptomatic infants in England who are genetically predisposed to spinal muscular atrophy (SMA).

Per updated recommendations from the country’s National Institute for Health and Care Excellence (NICE), this includes children younger than age 1 with two mutated copies of the SMN1 gene and up to three copies of the backup SMN2 gene.

While the therapy was previously accessible to such infants on a conditional basis, final data from the SPR1NT Phase 3 trial (NCT03505099) supported the decision to formalize treatment access for this patient group.

“Infants with SMA experience irreversible loss of motor neurons, substantially affecting their survival and impairing their quality of life,” Imran Kausar, general manager at Novartis Gene Therapies UK, which markets Zolgensma, said in a company press release.

“Zolgensma will be the first treatment to be routinely commissioned for presymptomatic babies in England, and as it is imperative to diagnose SMA and begin treatment as early as possible, we welcome the decision by NICE for this recommendation,” Kausar added.

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Zolgensma is a gene therapy that provides SMA patients with a healthy version of SMN1 — mutations in which are the cause of the progressive disease. By targeting the disorder’s root cause, the single dose therapy is expected to slow disease progression or stop it altogether.

The treatment earned conditional approval in the European Union in 2o2o for children with SMA type 1 or genetically predisposed babies without symptoms who weighed up to 21 kg (about 46 pounds).

With a list price of around £1.8 million, or $2.1 million, Zolgensma is one of the most expensive medications in the world.

In the U.K., medications listed through the National Health Services (NHS), a public health program, are available for free or with a small copay. A medication’s listing in England’s NHS — and which patients are eligible to receive it via the public program — is dictated by recommendations from NICE.

To make that determination, NICE considers a treatment’s benefits and its cost-effectiveness. Zolgensma gene therapy was considered under a Highly Specialized Technologies program, which uses a higher threshold for cost-effectiveness.

In 2021, NICE recommended that Zolgensma be covered by the NHS given its potential to substantially prolong and improve the lives of babies with SMA, despite its high cost.

But that recommendation only covered infants as old as 1 year who had been diagnosed with SMA type 1 and who did not need permanent ventilation for more than 16 hours a day. Babies ages 7-12 months (1 year) could access it only if a multidisciplinary healthcare team agreed it would give them at least a 70% chance of sitting independently.

At that time, presymptomatic babies could receive the gene therapy on a limited basis as part of a managed access arrangement.

Routine inclusion of those children in the recommendations was pending results from the SPR1NT trial, which was testing the safety and efficacy of Zolgensma in 29 presymptomatic babies.

Final trial data indicated that Zolgensma was safe and effective, helping babies attain major motor milestones. All children were alive and free from a ventilator or feeding tube as of their last assessment, a median of 1.5 years after receiving treatment.

Based on the findings, NICE has now concluded that the therapy is effective for presymptomatic babies, drafting new recommendations that it be routinely commissioned for that patient group. The final guidelines are expected to be published on April 19.

Zolgensma will be the first treatment to be routinely commissioned for presymptomatic babies in England, and as it is imperative to diagnose SMA and begin treatment as early as possible, we welcome the decision by NICE for this recommendation.

This update also highlights the importance of early detection. There is no newborn screening (NBS) program for SMA in the U.K. Now, children are screened only if they show symptoms or have a family history.

“I have seen too many families devastated by this disease, but we now have treatment options,” said Laurent Servais, MD, PhD, professor of pediatric neuromuscular disease at the University of Oxford, in England.

“However, waiting until the onset of symptoms is still too late,” Servais said, adding, “Every day we delay in finding and treating these infants, we could be responsible for a child spending their life in a wheelchair.”

Servais noted that NBS “is imperative to help detect the disease and treat it presymptomatically.”

It also could be more cost effective and save resources, according to a recent analysis. That analysis found that NBS could save £62,191,531 (more than $76 million) over the lifetime of a group of 56 babies — about the number of children born with SMA each year in England. Those children also could see an overall gain of 529 quality-adjusted life years, or years in perfect health.