The urgent case for introducing newborn screening for Spinal Muscular Atrophy (SMA) in the UK

4 min read29 January Partner content

This article, authored by Peter Dowd MP, and the ‘Every Moment Matters’ campaign have been initiated and funded by Novartis Pharmaceuticals UK Ltd.

Every Moment Matters for the babies and families affected by SMA. That’s why I’m backing the call for the UK to implement newborn screening for SMA as soon as possible to transform lives, advance rare disease policy ambitions and bring the UK in line with international comparators.

Spinal Muscular Atrophy (SMA) is a rare disease, affecting 70 babies a year in the UK.¹ Its impact can be truly devastating, and it remains the leading genetic cause of infant death.² Without treatment, 90% of babies with Type 1 SMA (the most common sub-type) die before their second birthday or need permanent ventilation.³

Thankfully, in the last five years, effective SMA treatments have become available. If given before symptoms appear, intervention can transform the lives of babies affected. However, it is critical that babies are diagnosed at the earliest possible opportunity to prevent irreversible disability. A degenerative condition, SMA causes the rapid loss of motor neurons in the spinal cord and by the time of diagnosis, usually at around six months, treatment benefits become more limited due to disease progression.^{4, 5}

Newborn screening is the fastest route to early diagnosis of SMA.⁶ In the UK, the NHS Bloodspot Programme identifies a range of rare but serious diseases in newborn babies, meaning they can be linked to timely care. As it stands, SMA is not included in the programme.⁷ It is, however, screened for in nearly two-thirds of Europe geographically, including in Russia and Ukraine, and as of late 2023, recommended for implementation in Ireland.^{8, 9}

Over the past year, families have joined together to share their experiences of SMA. Parents whose young children are living with life-altering disabilities, unable to stand or eat without help. Parents who, devastatingly, lost their baby before they could receive treatment. The severity of the situation is striking, yet the solution could be so simple. If newborn screening had been available for these families, their stories and lives would look very different today.

This is why I’m supporting Every Moment Matters - a collaboration across leading SMA and rare disease experts, Parliamentarians from across England, Scotland and Wales, and families impacted by the condition, funded by Novartis. The UK National Screening Committee (NSC) is conducting a review to decide whether to include SMA within the NHS Bloodspot Programme, and the collaboration has put forward a clear set of recommendations for this decision to be made, and screening to be introduced, without delay.¹

Aside from the crucial positive impact this would have on the babies and parents affected, newborn screening also represents a vital tool in meeting key policy ambitions set out in the landmark UK Rare Diseases Framework (and subsequent Action Plans), and its introduction in this country would do much to help bring the UK in line with other European nations.¹⁰

The case for change is clear. To add your support to our call for action, you can:

Read the Every Moment Matters policy report - highlighting the urgent need to utilise the wealth of real-world and international evidence that supports the implementation of newborn screening for SMA in the UK.
Join us on Monday 5th February at 17:00 for the Opening Ceremony of the Every Moment Matters Parliamentary exhibition in the Upper Waiting Hall where you can meet families, hear their stories and pledge your support for this important campaign.

For babies with SMA and their families, every moment matters. If we act now, we can make a meaningful difference to the lives and health of those with SMA, forever.

Date of Preparation: January 2024 / MLR ID 390631

References

UK National Screening Committee. Progress and next steps in the UK NSC assessment of newborn screening for SMA. August 2023. Available here. (Accessed January 2024)
Kolb, SJ et al. Natural history of infantile-onset spinal muscular atrophy. Annals of neurology. 2017; 82(6):883-891.
Finkel RS, McDermott MP, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810–817.
University of Oxford - First UK pilot study of newborn screening for spinal muscular atrophy launched in Oxford – March 2022 Available here. (Accessed January 2024)
Lin, C. et al. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatric neurology, 53(4), 293–300.
UK SMA Newborn Screening Alliance. Our mission. Available here. (Accessed January 2024)
Public Health England (Office for Health Improvement and Disparities). Newborn blood spot screening: programme overview. November 2018. Available here. (Accessed January 2024).
SMA Newborn Screening Alliance. Status Map. Available here. (Accessed January 2024).
Gov.ie. Minister for Health adds new condition to the National Newborn Bloodspot Screening Programme. Available here (Accessed January 2024)
Department of Health and Social Care. The UK Rare Disease Framework. January 2021. Available here. (Accessed January 2024).

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