Zolgensma®▼ (onasemnogene abeparvovec) receives NICE final draft guidance in presymptomatic babies up to 12 months with spinal muscular atrophy (SMA)

 London, UK, 16th March 2023 – Novartis Gene Therapies has confirmed that the National Institute for Health and Care Excellence (NICE) is recommending the use of Zolgensma (onasemnogene abeparvovec) as an option in babies with presymptomatic 5q spinal muscular atrophy (SMA) with a bi-allelic mutation in the SMN1 gene and up to three copies of the SMN2 gene. This recommendation will allow routine access to onasemnogene abeparvovec, which is designed to address the genetic root cause of SMA to help halt disease progression, before the onset of SMA symptoms.3 Treatment at this early presymptomatic stage of the disease is critical to ensure babies with SMA have the best chance for optimal outcomes.1

Imran Kausar, General Manager at Novartis Gene Therapies UK, commented, “Infants with SMA experience irreversible loss of motor neurons, substantially affecting their survival and impairing their quality of life. 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.”

In the UK, there is no national newborn screening programme for SMA. Currently, only infants who have a sibling history of SMA or have had family screening are identified presymptomatically. Babies without a family history are only diagnosed if symptoms are identified, which can take up to six months.4 There is an urgency for change to ensure the next cohort of babies have a chance at the best treatment outcomes. Newborn screening could provide a nationwide solution to identify these patients from birth.2

Prof. Laurent Servais, Professor of Paediatric Neuromuscular Disease at the University of Oxford commented, “I have seen too many families devastated by this disease, but we now have treatment options. However, waiting until the onset of symptoms is still too late. Every day we delay in finding and treating these infants, we could be responsible for a child spending their life in a wheelchair. Diagnosis of SMA through newborn screening is imperative to help detect the disease and treat it presymptomatically. Then we have more potential to transform the lives of infants with SMA and their families.”

Newborn screening for SMA has been shown to be a more cost-effective use of NHS resources, based on a recent cost analysis using UK assumptions which evaluated the cost- effectiveness of NBS followed by treatment against a treatment pathway without NBS.2 The results showed that NBS provides a cost saving of £62,191,531 over the lifetime of a newborn cohort, based on approximately 56 babies identified with SMA per year in England.2 In addition, there were improved health outcomes from NBS with an estimated gain of 529 quality-adjusted life years (QALYs) over the lifetime of a newborn cohort identified per year. One QALY is equal to one year of life in perfect health.2

On 7th July 2021, following a landmark deal, onasemnogene abeparvovec was made available on the NHS recommended for patients with clinical diagnosis of SMA Type 1 up to 12 months of age as part of a managed access agreement.5 Onasemnogene abeparvovec was granted conditional access for presymptomatic patients, pending results of the Phase III SPR1NT clinical trial. Following the completion of the trial and exit from the managed access agreement, NICE began the partial review of onasemnogene abeparvovec for treating SMA in presymptomatic babies. The NICE committee has concluded that onasemnogene abeparvovec is effective in treating presymptomatic SMA, resulting in their draft final guidance for it to be routinely commissioned for the treatment of presymptomatic babies.

Product information is available at: Summary of Product Information for Zolgensma.