Jul 17, 2025
  • Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death in the UK.1,2
  • Diagnosing and treating SMA at the earliest possible point provides the strongest opportunity to help prevent disease progression.3 Unlike nearly three quarters of Europe, the UK does not include SMA in the NHS Newborn Screening Programme.4
  • New survey data of UK parents and expectant parents*, developed and funded by Novartis found that:
    • 90% want to know if their child has SMA as early as possible.
    • 81% are concerned that SMA is not currently screened for in the UK.
    • 81% consider the £5 cost to the NHS per test good value.5

London, 17 July 2025 - Today, Novartis announced results of a UK-wide survey, demonstrating 82% of parents support the immediate need to include spinal muscular atrophy (SMA) in the NHS Newborn Screening Programme.5 SMA is one of the leading genetic causes of infant death in the UK. Left untreated, around 90% of babies born with SMA Type 1 will either die before their second birthday or require permanent ventilation.6

Newborn screening for SMA is the fastest route to early diagnosis, yet it's not currently included in the NHS Newborn Screening Programme. Without access to newborn screening, a diagnosis can only take place once symptoms appear, usually within the first six months, at which point the damage caused is irreversible.6 As a result, even once treatment is initiated, most babies diagnosed with SMA will never walk independently, and many will need mechanical ventilation, nutritional support and 24/7 care.7,8

Diagnosing and treating SMA at the earliest possible point provides the strongest opportunity to help prevent disease progression and may provide babies with a chance at a life without severe disability.7

"Implementing SMA screening is not just a medical necessity, it is a moral imperative.” said Giles Lomax, Chief Executive, SMA UK. “This survey demonstrates the public support for newborn screening, a straightforward, cost-effective intervention that has the potential to save countless lives”.

Global comparison: UK lagging behind
The UK is a significant global outlier in relation to newborn screening for SMA. The United States and nearly three-quarters of wider Europe have introduced comprehensive, routine SMA newborn screening programmes,4 and survey results confirm 81% of respondents are concerned that SMA is not currently screened for in the UK.5

“Newborn screening of SMA is a medical, ethical and economical emergency” said Professor Laurent Servais, Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre, and Chair of the UK SMA Screening Alliance. “Wrong and slow decisions kill. Today, in the UK, we are not screening our children for SMA even though we know how it works and we know how to use it. This must change.” 

Survey results

  • 90% of participants want to know if their child has SMA as early as possible (England 90%, Northern Ireland 86%, Scotland 89%, Wales 90%).5
  • 81% of participants are concerned that SMA is not currently screened for in the UK (England 81%, Northern Ireland 88%, Scotland 78%, Wales 77%).5
  • 82% believe the UK should implement SMA screening immediately (England 82%, Northern Ireland 84%, Scotland 79%, Wales 86%).5
  • 81% consider the £5 cost per genetic screening test as good value (England 81%, Northern Ireland 70%, Scotland 81%, Wales 85%).5

 

Economic and clinical justification

The case for SMA newborn screening is supported by economic and clinical evidence. With newborn screening and early treatment, approximately 80% of children with SMA will likely sit and walk independently, as opposed to approximately 20% of children in the current situation. This approach is projected to save the NHS over £62 million in lifetime costs,9 with survey results finding 81% of participants consider the £5 cost to the NHS per heel-prick screening test as good value.5

Newborn screening for SMA is essential to help prevent severe disabilities, save lives, lower NHS costs, and alleviate the burdens on families. 

“The situation is urgent.” said Johan Kahlström, Country President and Managing Director, Novartis UK and Ireland. "We believe that this Government has an opportunity to make newborn screening for SMA a reality. A simple heel-prick test is the key to help prevent avoidable disability and heartbreaking loss for families affected by SMA."

*Expectant parents refers to expectant and hopeful parents.

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About spinal muscular atrophy
Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disease caused by a lack of a functional SMN1 gene, resulting in the irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement.7,10,11 The severity of SMA varies across a spectrum of types that generally correspond to the number of copies the individual has of the SMN2 gene, which produces a small fraction (~10%) of functional SMN protein compared with SMN1.7 Loss of motor neurons cannot be reversed, so patients with SMA with symptoms at the time of treatment will likely require some supportive respiratory, nutritional and/or musculoskeletal care to maximise functional abilities.11

About the survey 
The Novartis-developed and funded UK newborn screening survey sought to understand public perceptions and awareness of newborn screening for spinal muscular atrophy (SMA) in the UK. Conducted online from May 16th to 23rd, 2025, the survey gathered insights from a nationally representative sample of 2,000 UK residents, made up of 1,000 parents of young children and 1,000 expectant or planning parents.5

 

About Novartis
Novartis is an innovative medicines company. Every day, we work to reimagine medicine to improve and extend people’s lives so that patients, healthcare professionals and societies are empowered in the face of serious disease. 

In the UK, we champion health and lives through pioneering NHS partnerships, innovative collaborations and a clear focus on the greatest healthcare challenges we all face. We are where science meets hope.

To reimagine medicine with us, visit our website at https://www.novartis.com/uk-en/ and connect on LinkedIn, Facebook, and Instagram.

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FA-11447333-1 | July 2025

References

  1. Kolb SJ, Coffey CS, Yankey JW, et al. Ann Neurol. 2017;82: 883–91. Accessed June 2025.
  2. UK SMA Newborn Screening Alliance. Our mission. Available at: https://smanewbornscreening.org.uk/. Accessed June 2025.
  3. National Organization for Rare Disorders (2024). Spinal Muscular Atrophy. Available at: https://rarediseases.org/rare-diseases/spinal-muscular-atrophy/#diagnosis. Accessed June 2025.
  4. SMA Newborn Screening Alliance. Status Map. Available here: https://www.sma-screening-alliance.org/map. Accessed June 2025.
  5. Data on file.
  6. University of Oxford. First UK pilot study of newborn screening for spinal muscular atrophy launched in Oxford. March 2022. Available here: https://www.ox.ac.uk/news/2022-03-11-first-uk-pilot-study-newborn-screening-spinal-muscular-atrophy-launched-oxford#:~:text=Oxford%20University%20is%20initiating%20a,at%20the%20earliest%20possible%20opportunity. Accessed June 2025.
  7. Finkel RS, et al. Neurology. 2014;83(9):810–817. Accessed June 2025.
  8. UK SMA Newborn Screening Alliance. Why we are launching a monthly barometer - to demonstrate the human cost of delaying newborn screening. Available here: https://smanewbornscreening.org.uk/news/why-we-are-launching-a-monthly-barometer-to-demonstrate-the-human-cost-of-delaying-newborn-screening/. Accessed June 2025.
  9. Weidlich D, et al. Neurol Ther. 2023;https://doi.org/10.1007/s40120-023-00489-2. Accessed June 2025.
  10. Anderton RS and Mastaglia FL. Expert Rev Neurother. 2015;15(8):895–908. Accessed June 2025.
  11. Lorson CL, et al. Hum Mol Genet. 2010;(15):111-8. Accessed June 2025.