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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 …

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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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