But Zolgensma has helped people all around the world come to terms with an SMA diagnosis and realise there can be light at the end of the tunnel. Many countries have recognised Zolgensma’s transformative potential with 19 countries in Europe, the Middle East and Africa already having established access pathways since approval in the EU by the European Medicines Agency (EMA) in May 2020. Some countries have even granted temporary access agreements to allow and reimburse treatment with Zolgensma in their country before the therapy has been officially approved for market authorisation by their regulatory bodies. They understand the great urgency to treat such a devastating disease as well as the value that Zolgensma can offer.

The recent publication of results from the completed STR1VE-EU trial is one way that may demonstrate just why this confidence in gene therapy is growing and why regulatory bodies are more willing to accept risks related to new therapies than they were before. It has long been known – and demonstrated – that the earlier a baby with SMA is treated for the condition, the better potential outcomes the treatment will have. This has been underscored by the recently completed SPR1NT study in presymptomatic SMA patients. However, that does not mean that babies with further progressed cases of the disease or more severe symptoms do not respond to treatment. Data from STR1VE-EU demonstrated that 82% of babies and children who had a clinical diagnosis of SMA type 1 and a more aggressive disease at baseline upon enrollment – and therefore weakened muscle function – went on to achieve motor functions after treatment with Zolgensma, such as head control, rolling from back to side and sitting without support – milestones that are not seen in the natural history of the disease. Zolgensma has demonstrated a positive benefit-risk profile throughout both the SPR1NT and the STR1VE-EU trials, which is echoed across the medicine’s overall clinical programme.

Additionally, Zolgensma has demonstrated potential benefit in children who may be older or heavier than the patients that were treated in our clinical studies. In order to build Zolgensma’s clinical profile in this underserved patient population, we are currently working with markets globally to initiate our recently announced SMART clinical trial, testing Zolgensma in babies weighing between ≥8.5kg and ≤21kg. Babies ranging in-between those weights make up over half of all patients already being treated with Zolgensma commercially in Europe, so this trial aims to be representative of our patient population, expanding – and delivering – on our mission of helping all people impacted by SMA.

Novartis Gene Therapies is not the only one looking into evidence to better understand the full potential of Zolgensma. A recently published observational study by The Lancet Child & Adolescent Health evaluated real-world evidence on motor function outcome and potential side effects after gene replacement therapy in different subgroups of patients with SMA, in particular children who are older than six months and heavier than 8.5 kg. The investigators concluded that there is significant improvement in motor function for children treated with Zolgensma for SMA at ≤24 months of age and patients pre-treated with nusinersen, and confirm the overall safety and efficacy for treatment of older and heavier (up to 15 kg) patient populations. This data complements the emerging real-world use and evidence we have seen to date, with the goal of building confidence among caregivers and HCPs as they make informed treatment decisions.

Novartis Gene Therapies is continually working to push forward movements in favour of overall disease management. We want to ensure the best possible treatment outcomes for future generations impacted by SMA – and newborn screening (NBS) is the best way we believe will lead to this happening. NBS is a simple blood test performed at birth, via a small heel prick, that can screen babies for many diseases, including SMA. At Novartis Gene Therapies we are advocating, with other stakeholders, for the inclusion of SMA in NBS panels, as many countries do not currently screen for the disease. This is due to a number of reasons, for example, costs, resources, treatment availability and so on. We know that identifying a baby with SMA and beginning treatment as early as possible is associated with better outcomes. Enabling children to grow and develop healthily, at a similar rate to their unaffected peers, holds innumerable benefits – not only to the children themselves, but also to reducing the costs of chronic care for healthcare systems and burden on family or caregivers.

The reality of being a caregiver to a child with SMA is shattering. Current standard of care involves regular, lengthy visits to hospital to administer treatment, which is not only disruptive to and usually painful for the child, but also takes a huge toll on a caregiver’s independence, seeing many caregivers giving up jobs and social lives to account for the care demand. Even if not administered in hospital, chronic home treatment requires precise dosage calculations and timing, consuming significant caregiver time and responsibility. Although follow-up care may be required, Zolgensma offers caregivers the opportunity to live a less disturbed life and envision a reality of a healthier future for their child – something never thought possible before.
All of the strides Zolgensma has made to provide access to patients for the treatment of SMA can be seen in the development of new gene therapies or advanced therapeutic products, spanning a plethora of different diseases and conditions. The more we implement different methods to holistically assess disease management and care, from the very beginning of a child’s journey through NBS programmes, all the way up to establishing and negotiating sustainable access pathways, the more we’ll be able to build systems to support and advance the field of gene therapy, and the more the ever-growing confidence in gene therapy – and Zolgensma – will continue.

Mike Fraser is General Manager Europe, Middle East and Africa at Novartis Gene Therapies