Every Moment Matters: the urgent need for newborn screening for Spinal Muscular Atrophy (SMA) in the UK

Spinal Muscular Atrophy (SMA) is a rare, genetic condition that affects around 70 babies each year, with approximately one baby being born with SMA every five days in the UK.

SMA is characterised by the loss of motor neurons in the spinal cord and, if left untreated, babies affected will experience progressive muscle weakness and problems with mobility. Devastatingly, around 90 per cent of babies with SMA Type 1 – the most common type – will require permanent ventilation or die before their second birthday, making SMA the leading genetic cause of infant death in the UK.

The progressive nature of the disease means that, without timely intervention, 95 per cent of motor neurons will have already been lost by the time of diagnosis – around the age of 6.3 months – leading to devastating and irreversible effects.Without treatment, babies living with the disease will typically experience difficulty breathing, swallowing and sitting unsupported. This means babies with SMA are likely to miss key developmental milestones such as sitting, rolling, crawling, standing or walking.

Early detection of the disease within days of birth is therefore critical in ensuring babies can be offered an appropriate treatment and care plan before they begin to experience symptoms. It also provides a key opportunity to transform the lives of babies and families affected.

Despite this, British babies are not routinely screened for SMA. On this issue, the UK remains a significant outlier in comparison to other European countries: SMA is included in the national newborn screening programmes within more than half of EU member states, and nearly two-thirds of Europe geographically.

Urgent action is needed, and it is needed now. It is vital that we challenge the status quo in the UK and address this unacceptable inequality that newborns face if they are diagnosed with SMA in this country.

Novartis has recently launched a report called Every Moment Matters: Implementing newborn screening for Spinal Muscular Atrophy, which has been developed with support from leading SMA and rare disease experts, parliamentarians from across England, Scotland and Wales and families impacted by the condition. The report details the devastating impact of SMA and urgently calls on policy makers to support the campaign to introduce newborn SMA screening for all Babies born in the UK.

The impact of SMA on babies, families and wider society

The toll that SMA can place on those affected is enormous. Its impact has profound consequences, not just for the babies affected, but also their parents and families. Due to the early onset and debilitating nature of the disease, the burden of caring for a child with SMA is immense, leading to physical, psychological and often financial implications for families and carers.

Furthermore, SMA also generates significant and potentially avoidable costs for the NHS and society. Economic modelling has estimated that the introduction of newborn screening for SMA within the UK followed by treatment, is less costly to the NHS than a scenario without screening, with the potential lifetime savings to the NHS exceeding £62 million for each annual cohort of babies identified with the disease.

The UK is lagging behind comparable countries

Early diagnosis through newborn screening – which involves a simple blood spot test within the first few days of birth –  provides a quick and easy mechanism for early diagnosis, helping to detect the disease before symptoms appear, and potentially transforming the prospects of babies born with this condition (and those of their families).

In the United States, approximately 99 per cent of babies are screened for SMA at birth and nearly two-thirds of European countries have recognised the need for, and successfully implemented, SMA newborn screening in their national programmes. This includes countries such as Russia, Turkey and Ukraine, which successfully launched the programme earlier this year. Even amid an ongoing war, all newborns in the areas under an effective Ukrainian control continue to be screened for SMA.Most recently, Sweden announced that it would begin screening for SMA at birth, meaning that it will routinely test for a vast 26 rare diseases at birth.

In stark contrast, newborns in the UK are not routinely screened for SMA, making it a significant outlier to comparative nations.

While it is promising to see that the UK National Screening Committee – which is responsible for advising Ministers on issues relating to screening for health conditions in the UK – is conducting a review to decide whether to include SMA within the NHS newborn bloodspot programme, it is vital that this decision is made without delay. The longer it takes for a decision to be made, the greater the number of babies and families who will face barriers to diagnosis and treatment, ultimately leading to devastating outcomes for those affected.

With the government setting its sights on establishing the UK as a life sciences superpower in the coming years, implementing newborn screening for SMA not only has the potential to improve health outcomes and the quality of life for those babies and families affected, but also represents a clear and tangible opportunity for government to deliver on its key policy commitments. This includes the ambition to address the delays to diagnosis experienced by people with rare diseases.

We at Novartis and the wider SMA community recognise the wide-ranging benefits that that implementing newborn screening could have, not only on those affected, but on the nation as a whole. We are calling for screening to be in place across all four nations of the UK as quickly as possible.  

For babies with SMA, Every Moment Matters. Let’s take action together, now.

This article has been initiated and funded by Novartis Gene Therapies. The full Every Moment Matters report is available to read here.