In July last year, (2024) the UK National Screening Committee (NSC) published an update on the progress towards a SMA screening in-service evaluation (ISE).
The ISE is similar to a pilot study, screening a percentage of babies born in the UK for SMA over a set period of time. The ISE will help the UK NSC develop UK specific evidence on newborn screening for SMA and inform them how newborn screening for SMA might work in a UK setting. Outcomes from the ISE will inform the committee’s final recommendation on whether to recommend that SMA is added to the UK newborn screening programme and heel prick test.
In preparation for the roll-out of the ISE, the UK NSC have established several sub-groups which focus on different aspects of the ISE delivery. These include; the laboratory sub-group, which is looking at the processes that will have to be implemented in UK blood test laboratories, the data and methodology sub-group and the task and finish sub-group that has been set up to look at the parent and professional information and training that will be required to support the ISE.
We are delighted that SMA UK have been invited to bring the patient perspective to a number of these subgroups. We have been working with the NSC to ensure real world experience and expertise is carefully considered throughout the planning process.
The delays
Despite significant progress with the planning of the ISE, we still do not have a clear timeline for when it will be rolled out across the UK. This frustrating uncertainty is due to delays in issuing a ‘call for research’. To inform the NSC’s final decision, the data, findings and experiences that come out of the ISE will have to be summarised by a team of researchers. This call for research (to find a team) was due to be issued by the National Institute for Health and Care Research (NIHR) in June 2024, but now, 8 months later we are still waiting. The NIHR cannot begin to find these researchers until NHS England (NHSE) formally agrees that they will deliver the planned ISE.
What is SMA UK doing about it?
With delays significantly impacting the everyday lives of babies born with SMA and their families across the UK, SMA UK and Muscular Dystrophy UK along with the expert clinicians from the SMA REACH UK network and academics that make up the Newborn Screening Alliance for SMA, are advocating to speed up the call for research in a number of ways. We have written to several politicians, we regularly communicate with the UK NSC and partake in any opportunity to raise awareness through petitions, public speaking, written articles, and attendance at any virtual or face to face meeting; where the newborn screening argument can be raised, we hope to spearhead progress.
We are aware that due to differing healthcare systems, inequities in access to newborn screening could potentially arise in Scotland, so we have also been working with the Scottish government and leading clinicians.
The Lancet publication
On February 7th 2025, a letter authored by leading SMA clinicians, Laurent Servais, Tamara Dangouloff, Francesco Muntoni, Mariacristina Scoto and Giovanni Baranello, entitled ‘Spinal muscular atrophy in the UK: the human toll of slow decisions’ was published in the prestigious scientific magazine ‘The Lancet’.
The letter highlights the ‘substantially different outcomes for children born in the UK compared with those born in many other countries where newborn screening is available’. The authors powerfully describe some shocking statistics on the differences seen in the outcomes for babies born with SMA type 1 in the UK when compared to those in Europe, who are being diagnosed and treated through newborn screening.
They explain how in the UK, babies born with SMA, treated after symptoms start, are still dying. Of those born with SMA type 1 who live, non can walk and the majority are reliant on ventilatory support and tube feeding. Comparatively, in Belgium, babies diagnosed and treated through newborn screening all survived, all are ambulant, and none are reliant on ventilatory or nutritional support.
How can you help?
We encourage you to raise awareness of the compelling arguments presented in the Lancet letter, as well as the significant delays. Please take action by contacting your local Member of Parliament (MP).
Instructions:
- Download the template letter Here:
- Personalize the letter by replacing the red text with your own story and details.
- Find your local MP by entering your postcode here.
- Select your MP from the list.
- Copy and paste your personalised letter into the submission box.
- Add your contact details.
- Preview your letter and send it. After sending, kindly let us know by sending a WhatsApp message to: 07483 070304 or email portia.thorman@smauk.org.uk with the following: “I have contacted my MP, [Your Name], [Your Postcode].”
Thank you for your support!
