The genetic disease spinal muscular atrophy (SMA) occurs in about 1 in every 10,000 live births1. That means about 70 babies are born in the UK each year with the condition.
SMA is an inherited (genetic) condition that affects the nerves in the spine. These transmit instructions from the brain to the muscles that control the ability to move, speak, swallow and breathe. Their loss causes gradual muscular weakening and muscle loss.
After its most recent review of the evidence in 2018, the UK NSC recommended not to screen because at the time there was:
- limited evidence on how well the test predicted SMA
- no evidence to show how effective a screening programme would be
- no evidence for effective treatments for people who did not show symptoms of SMA
- limited information about an emerging treatment
Since the 2018 review, there have been significant developments that the UK NSC will consider in reviewing the case for introducing screening for SMA as part of the newborn blood spot screening programme.
These developments include that several drugs can now be prescribed for SMA on the NHS. For example, in England the drugs are available through a National Institute of Health and Care Excellent (NICE) managed access agreement (MAA). This agreement enables patients to access treatment while NICE collects more data before making a final recommendation on their use.
Last year, the UK NSC held a large workshop with many stakeholders. Their contributions helped shape the plan for the next UK NSC evidence review update for SMA screening.
It was agreed at the workshop that an in-depth analysis of the evidence was needed to inform a comprehensive statement and recommendation. This work is now under way.
New evidence review project
The new evidence review project has 3 objectives:
- Objective 1: Conduct a review of available decision analytic modelling studies and cost effectiveness evaluations which address newborn screening for SMA in the era of new treatments
- Objective 2: Develop an evidence map of published studies and evaluations of polymerase chain reaction (PCR) based screening and treatment in pre-symptomatic SMA
- Objective 3: Propose (scope) a plan for a future modelling study with clinical and cost effectiveness outcomes
The School of Health and Related Research (ScHARR) at the University of Sheffield has been commissioned to carry out this work and is keen to engage with stakeholders. Some key stakeholders will play an active role in workshops as part of the model scoping part of the project.
This is a substantial project and work is likely to continue throughout 2023. We will keep you updated on progress via this blog. Please watch this space.
1 Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, Cook SF, Lochmüller H. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017 Jul 4;12(1):124
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