Landmark research has demonstrated the life-saving benefits and cost-effectiveness of newborn screening for a severe muscle wasting disease. The Mirror advocates for the nationwide implementation of a simple £5 blood test for spinal muscular atrophy (SMA) on the NHS following a study conducted by Oxford University. The study, published in the Lancet medical journal, revealed that 507 babies were born with SMA since 2019 in the UK. Early treatment with available NHS therapies can cure the condition if administered at birth.
Due to the lack of newborn screening for SMA in the UK, infants with the most severe Type 1 form were typically diagnosed at six months, resulting in poor outcomes. In contrast, southern Belgium, which screens for SMA at birth, reported all SMA babies surviving without the need for walking aids, breathing support, or feeding tubes post-treatment.
A study led by Professor Laurent Servais compared the outcomes of UK SMA patients to those in southern Belgium, emphasizing the significant impact of newborn screening programs. The study estimated that supporting an SMA baby in the UK costs £74,000 annually, compared to £25,000 for babies identified through newborn screening.
The Mirror has been advocating for the inclusion of SMA screening in the NHS newborn heel prick test to prevent unnecessary suffering among children. The case of Ezra Thorman, successfully treated for SMA but facing severe challenges, exemplifies the importance of early diagnosis and intervention.
Pharmaceutical company Novartis estimates that 33 UK babies annually suffer permanent disability due to late SMA diagnosis. SMA patients lack the SMN1 gene necessary for producing the SMN protein, leading to muscle degeneration.
While three approved treatments can halt SMA progression, early intervention is crucial as irreversible nerve damage occurs in the initial stages of the disease. Despite global SMA screening practices, the NHS Newborn Blood Spot Test currently excludes SMA screening, a deviation from international standards.
Professor Servais emphasized the ethical and financial benefits of screening for SMA, urging prompt action to prevent unnecessary suffering. The UK National Screening Committee’s decision to conduct further research delays nationwide SMA screening rollout until at least 2031, with Scotland moving forward with SMA screening in the spring.
The Department of Health and Social Care expressed commitment to advancing SMA screening efforts to ensure timely diagnosis and access to life-changing treatments for affected children.
