Hundreds of thousands of newborn infants are set to undergo screening for a severe muscle-wasting illness, marking a significant achievement for the Mirror. Health Secretary Wes Streeting has advanced plans to test 400,000 babies in England for spinal muscular atrophy (SMA). Jesy Nelson, a former member of the band Little Mix, brought attention to the issue due to the delayed diagnosis of her twins, resulting in irreversible nerve damage and the likelihood that they will never walk.
The Mirror has launched a campaign advocating for SMA testing for all newborns to facilitate early administration of new treatments that essentially serve as a cure if initiated at birth. A pilot program by the NHS aimed at screening most newborns in England for SMA, which had faced significant delays, will now commence earlier than planned, starting in October of this year instead of January 2027. Mr. Streeting expressed his commitment to accelerating the In-Service Evaluation (ISE) of SMA screening, acknowledging the importance of early diagnosis highlighted by Jesy Nelson and Giles Lomax, the CEO of SMA UK.
The pilot initiative aims to test an estimated 404,000 babies in England, with 163,000 infants left untested to serve as a control group for outcome comparison, a move criticized by experts as “unethical.” In Scotland, the government has decided to implement SMA screening for all newborns, while Wales and Northern Ireland have yet to make a similar decision, leaving 47,000 annual newborns untested.
Notably, SMA patients have a malfunctioning SMN1 gene, resulting in insufficient SMN protein production vital for maintaining nerve cell health and muscle function. The absence of this protein leads to nerve cell degeneration, particularly in the legs, chest, and arms, causing muscle weakness. Currently, three NHS-approved treatments aim to halt disease progression: Nusinersen (Spinraza), Evrysdi, and Zolgensma, each with distinct mechanisms to boost SMN protein levels.
The UK’s Newborn Blood Spot Test involves a heel prick on five-day-old babies to collect blood drops for screening serious health conditions, including SMA. In comparison to other countries such as Italy, Austria, Poland, and Portugal, the UK’s screening program checks for fewer health conditions, with a higher prevalence of SMA screening in various EU countries.
Despite being a global outlier in newborn SMA screening, the UK has witnessed advancements in SMA treatments and awareness, with calls for national screening supported by evidence from around the world. The decision-making process regarding SMA screening has faced scrutiny, with the National Screening Committee requiring further studies before considering a full rollout. The current In-Service Evaluation in England, funded by the National Institute for Health and Care Research (NIHR), aims to evaluate the effectiveness of newborn SMA screening and provide evidence to inform national screening decisions.
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