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Highlighting our campaign for newborn screening as part of SMA Awareness Month

1 August 2023

As part of Spinal muscular atrophy (SMA) Awareness Month, we’re sharing our latest updates on our campaign for the condition to be included in the national newborn screening programme.

Every baby in the UK is offered some screening tests in their first six to eight weeks. As part of this process, the newborn blood spot test involves taking a small sample of a baby’s blood to check it for nine rare but serious health conditions. Currently, SMA is not one of the conditions that are screened for – despite being included in many other countries’ newborn health checks.

We’re part of the UK SMA Newborn Screening Alliance calling for this to change.

The need for newborn SMA screening

While most babies are healthy and won’t have any of the conditions the newborn tests are assessing, for babies who do have a health problem, the benefits of screening can be life saving. Early treatment can improve their health and prevent severe disability or even death.

This is certainly the case with SMA – a condition that a baby is born with every five days in the UK. Earlier treatment before symptoms start is vital. Once a child starts to show symptoms of SMA, there is already irreversible damage to the nervous system which affects muscles and movement.

Current policy and new treatments

In 2018, the UK National Screening Committee (UK NSC), that makes recommendations about which conditions should be screened for, decided not to recommend adding SMA to the national screening programme.

At that time, there were no treatments available for SMA on the NHS. But now, zolgensma is a recommended treatment and nusinersen and risdiplam are available through Managed Access Agreements (MAAs).

The UK SMA Newborn Screening Alliance is chaired by Professor Laurent Servais, Professor of Paediatric Neuromuscular Diseases at the MDUK Oxford Neuromuscular Centre. It brings together leading SMA experts in the clinical and academic community and patient organisations, including Spinal Muscular Atrophy UK and us at Muscular Dystrophy UK (we jointly provide the secretariat to the Alliance) to call for SMA to be added to the conditions that are screened for.

The Alliance is focused on four key aims
  • Contribute to the development of evidence on newborn screening for SMA and provide expert input to the UK NSC
  • Identify opportunities and advocate for an accelerated recommendation on SMA newborn screening
  • Ensure that the wider SMA community is informed about progress towards introducing newborn screening and has the opportunity to support and be involved in advocacy
  • Support wider efforts by the rare disease community to improve the UK process for expanding newborn blood spot screening so that more children born with rare diseases are able to benefit from earlier diagnosis and treatment
Positive steps forward

On 20 July, the UK NSC announced a significant step towards recommending SMA as a condition to be added to the Newborn screening programme. They recommended that plans for a UK-wide pilot (called an ‘in service evaluation’) of newborn screening for SMA should progress at the same time as the development of an economic model. Although this isn’t a recommendation to start newborn screening in the UK, it means the UK NSC will be able to collect the information it needs to make a decision faster than originally planned. This is a great step forward and one that we welcome.

We look forward to continuing our role as co-secretariat of the UK SMA Newborn Screening Alliance and to collaborating with the UK NSC and NHS England newborn screening teams to help inform and speed up the process wherever we can.

Visit our campaigns page to find out more and sign up to hear about our latest news, campaigns, research, and ways you can support us.

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