Last updated: January 2025

The ISE/SMA Partnership

In January 2024, in preparation for the roll-out of the ISE, the UK NSC established several sub-groups. These focus on different aspects of the ISE delivery. They include:

• The laboratory sub-group – to confirm the processes that will need to be set up in UK blood test laboratories
• The clinical pathway sub-group – to establish the fastest possible timeline  between an ‘SMA suspected’ test result, its confirmation and the start of treatment. This set up a task and finish group – to develop: information for parents; information and training for health professionals inviting parents to have their baby screened
• The data and methodology sub-group – to ensure that the ISE design will meet the overall NSC objectives.

The sub-groups report to the overarching ISE/SMA Partnership Board. Its members represent the many groups and stakeholders involved in developing this complex evaluation.

SMA UK representatives have been bringing the patient perspective to these groups and the Board. We have been ensuring real world experience and expertise is carefully considered throughout the planning process.  We have been advocating for the ISE’s earliest possible introduction.

Recording and reporting on the ISE results

An independent academic research group (IRG) must be selected before the ISE is rolled out. It must approve the design of the ISE. The IRG then monitors and collects the answers to the questions the UK National Screening Committee (NSC) has about future NBS for SMA.

The National Institute for Health and Care Research (NIHR) developed the brief for this independent research study. They took part in the ISE planning meetings. They should therefore understand the complexities of running this programme and hear the advice of the clinical, patient and other experts.

Slow Progress

We had been advised that the NIHR was likely to advertise the brief of the study in late summer 2024. This was delayed by questions raised by the Department of Health and Social Care (DHSC) which has to approve such studies. The NIHR finally released its invitation to researchers to apply on 28th May 2025. Closing date for applications was 24th September 2025.

The decision about who will undertake the research should be made by the National Institute of Health Research’s Health Technology funding committee in March 2026. There has been one application.

In autumn 2024, the laboratory group reported that it would be possible to aim to begin screening for SMA in the ISE in mid or late 2025. This was provided that the 6 labs which currently test blood spot samples for SCID by an appropriate method are used. This possible start date is clearly not going to happen.

At this time, NHS England said that the 2025 timescales were challenging given current resource constraints, but confirmed there is high level NHSE commitment to the project.

The change in Government at the end of 2024 brought with it a major spending review of all NHS commitments. The ISE got caught up in this. The ISE/SMA Partnership Board and all those involved did all they could to obtain a green light for it to go ahead as planned.