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Maximising returns: combining newborn screening with gene therapy for spinal muscular atrophy
  1. Thomas H Gillingwater
  1. Edinburgh Medical School: Biomedical Sciences, The University of Edinburgh, Edinburgh, UK
  1. Correspondence to Prof Thomas H Gillingwater, The University of Edinburgh, Edinburgh, EH8 9YL, UK; T.Gillingwater{at}

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Newborn screening (NBS) has clinical and economic benefits when combined with gene therapies treating spinal muscular atrophy (SMA)

Few would argue that the recent series of breakthroughs successfully delivering effective Survival Motor Neuron (SMN) protein-restoring gene therapy to patients with SMA represents a milestone achievement in the field of neuromuscular diseases. The approval of nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma) and risdiplam (Evrysdi) by regulatory agencies has, for the first time, provided genuine disease-modifying therapeutic options.1 2 While these therapies fall short of a cure, the benefits delivered far exceed what was realistically predicted and hoped for, both in terms of patient survival and achievement of major motor milestones.2–4

Understandably, significant efforts have been made by SMA patient organisations and charities to ensure rapid access to SMN-restoring therapies for as many patients as possible. However, access to these therapies has become a highly charged societal and political debate, largely due to high list prices: onasemnogene abeparvovec has a list price of $2.1 million per single dose and nusinersen costs $750 000 for the first year of treatment alone.2 While there have been notable successes with negotiating discounted prices by many healthcare providers, it is clear that cost remains a considerable issue with regard to providing access. Therefore, strategies that can either reduce costs or maximise therapeutic benefits are urgently being sought.

Extensive preclinical work, alongside emerging data from clinical trials, indicate that early treatment delivery has a significant impact on the efficacy of SMN-restoring therapies.2 4 Thus, implementation of NBS, facilitating presymptomatic treatment, could have a major impact on the effectiveness and economic viability of SMA therapies. Shih et al 5 report important new real-world data suggesting that NBS coupled with gene therapy improves the quality and length of life for patients with SMA, while also delivering significant cost savings.

Shih et al 5 took advantage of an Australian state-wide NBS programme for SMA, allowing them to estimate financial costs and also quality-adjusted life years (QALYs). By accessing this unique and important dataset, Shih et al demonstrated that the cost of combined NBS and early gene therapy would be less than $50 000 per QALY. This represents a cost per QALY that falls well within the willingness-to-pay thresholds (of between $50 000 per QALY to $500 000 per QALY) suggested by the Institute for Clinical and Economic Review,1 providing strong evidence to support clinical effectiveness and cost-effectiveness for NBS.

However, it should be noted that these findings5 are geographically restricted and may not reflect the situation outside of Australia. Given the widespread introduction of NBS programmes for SMA in the USA over the last few years, comparable data from a different geographical and healthcare setting will likely soon be forthcoming. Moreover, the clinical landscape for SMA is already shifting towards a second generation of therapies, where 'SMN+' approaches are being developed.2 4 Resulting competition in the SMA ‘marketplace’ will hopefully serve to reduce list prices and increase access for the wider patient population. The findings of Shih et al 5 suggest that NBS, and therefore early presymptomatic treatment of patients with SMA, has a key role to play in this future landscape, from both clinical and financial perspectives.

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  • Contributors The author solely contributed to this article.

  • Funding The author has not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests The author has served on spinal muscular atrophy advisory boards for Roche.

  • Provenance and peer review Commissioned; internally peer reviewed.

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