Associate Feature: Spinal Muscular Atrophy – A rallying call to sustain NHS Scotland’s proud legacy in screening policy

This article has been initiated and funded by Novartis Pharmaceuticals UK Ltd.

You may not have heard of spinal muscular atrophy (SMA). Affecting around 48 babies a year in the UK, it is a rare but serious genetic condition that causes nerves in the spinal cord to gradually deteriorate.^1,2 Without treatment, a baby born with SMA Type 1 (the most common form) will likely die before their second birthday.³

For the majority of parents or carers of children born with this condition, they hadn’t heard of SMA until they received the terrible diagnosis. Tragically, by this point, it can already be too late. The progressive nature of disease means that by the time SMA is identified, usually at around the age of 6 months, 95 per cent of motor neurons will already have been lost, leading to irreversible effects.⁴

I recently met with some families who have been impacted by SMA, including one from Edinburgh. Some children need a wheelchair full-time; others are stronger and can walk on their own. Devastatingly, some parents lost their baby before treatment could have an effect. For all the families, SMA has taken a huge physical and emotional toll.

The thing to understand about SMA is that it can be picked up in a blood sample before symptoms appear. Significant strides have been made in SMA innovations in recent years which mean that, alongside an early diagnosis, SMA can go from a life-threatening disease to a manageable condition.^5,6 However, the real-world impact of this innovation is being blunted by the continued absence of newborn screening in certain countries.

In the UK and Scotland, babies are screened for nine genetic conditions shortly after birth, but SMA is not on this list, which puts us far behind much of Europe.^7,8 SMA is already included within newborn screening programmes in two-thirds of Europe geographically, including in Russia, Ukraine and Ireland.8 In my role at Novartis, I’ve seen the positive impact of these screening programmes and it’s clear that Scotland and the UK are increasingly falling behind.⁹

Progress is being made, albeit slowly, with the body responsible for making screening recommendations in the UK recently commissioning an in-service evaluation to help guide its decision-making on SMA.¹⁰ However, it’s currently unclear whether this screening pilot will include Scotland, and there is no confirmed timeline of when it will start and how long it will take. 

Scotland, rightly, has a proud legacy when it comes to screening. It was the first UK nation to use the Guthrie card, the small device used to collect blood from the heel prick test, and more recently was the first to roll-out newborn screening for cystic fibrosis. These advancements  serve as a template for ours, but also as a warning sign. It took five years of hard campaigning to reach this decision on cystic fibrosis and a further two before screening was introduced across the nation.¹¹  We really can’t wait that long. 

It’s not just Novartis that believes the case for introducing newborn SMA screening is clear. At the end of April, SMA UK and other patient charities met with clinicians and the Cabinet Secretary for Health to call for decisive action on screening. Given the stakes involved, we hope these calls were heard. The clock is ticking, and while we’ve already lost so much time, there is still an opportunity to ensure no other family in Scotland is left behind to cope with the devastating and avoidable impacts of a treatable disease.

For more information, please read the Every Moment Matters 
policy report, available on the Novartis website, or reach out to us directly 
https://www.novartis.com/uk-en/every-moment-matters

<sup>UK MLR ID 447942 | May 2024

1 SMA UK. A Brief Overview: The Numbers. April 2024. Available at: https://smauk.org.uk/support-information/about-sma/sma-summary. (Accessed May 2024). 
2 Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015 Nov;33(4):831-46. doi: 10.1016/j.ncl.2015.07.004. PMID: 26515624; PMCID: PMC4628728. 
3 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.
4 University of Oxford (2021). First UK pilot study of newborn screening for spinal muscular atrophy launched in Oxford. Available at: https://www.ox.ac.uk/news/2022-03-11-first-uk-pilot-study-newborn-screening-spinal-muscular-atrophy-launched-oxford. Accessed May 2024.
5 UK SMA Newborn Screening Alliance. Our mission. Available at https://smanewbornscreening.org.uk/. (Accessed May 2024).
6 European Alliance for Newborn Screening in SMA. Spinal muscular atrophy: Screen at birth, save lives. Whitepaper. November 2021. Available at https://nbsallianceassets.gpm.digital/Spinal_muscular_atrophy_Screen_at_birth_save_lives_Whitepaper_SMA_NBS_Alliance_v2_25_NOV_2021_aa4fca4159.pdf. (Accessed May 2024).
7 Public Health England (Office for Health Improvement and Disparities). Newborn blood spot screening: programme overview. November 2018. Available at https://www.gov.uk/guidance/newborn-blood-spot-screening-programme-overview. (Accessed May 2024).
8 SMA Newborn Screening Alliance. Status Map. Available at https://www.sma-screening-alliance.org/map. (Accessed May 2024).
9 Gov.ie. Minister for Health adds new condition to the National Newborn Bloodspot Screening Programme. Available at https://www.gov.ie/.   (Accessed May 2024).
10 UK National Screening Committee. Progress and next steps in the UK NSC assessment of newborn screening for SMA. August 2023. Available at https://nationalscreening.blog.gov.uk/2023/08/04/progress-and-next-steps-in-the-uk-nsc-assessment-of-newborn-screening-for-sma/. (Accessed May 2024).
11 Cystic Fibrosis Trust, Back in Time Webpage. Available at: https://www.cysticfibrosis.org.uk/news/newborn-screening-campaign. (Accessed May 2024)</sup>