{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T22:59:12Z","timestamp":1768345152217,"version":"3.49.0"},"reference-count":59,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T00:00:00Z","timestamp":1768262400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"UK National Screening Committee"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a genetic condition that causes the degeneration of motor neurons in the spinal cord. Newborn blood spot (NBS) screening can potentially enable diagnosis before symptoms, and presymptomatic treatment is considered to be more effective than symptomatic treatment. In this paper, we present an overview of a cost-effectiveness model of NBS screening for SMA in the UK, informed by key clinical trials and the relevant published literature. Our analyses suggest that implementing screening could result in better outcomes and lower costs compared to the current approach of no screening plus treatment. However, several uncertainties and limitations of the model remain. These include uncertainty in the reimbursement status of nusinersen and risdiplam in the future; the \u2018actual\u2019 costs of treatments, as they are under confidential commercial agreements; uncertainty in the long-term effectiveness of presymptomatic and symptomatic treatment; and uncertainty around the incidence of SMA and the costs and the accuracy of NBS screening. An SMA in-service evaluation (ISE) that could capture data specific to the UK is under consideration, and an appropriately designed ISE with ongoing data collection could support periodic updates of clinical and cost-effectiveness estimates of NBS screening for SMA in the UK.<\/jats:p>","DOI":"10.3390\/ijns12010003","type":"journal-article","created":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T15:52:57Z","timestamp":1768319577000},"page":"3","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4122-2366","authenticated-orcid":false,"given":"Praveen","family":"Thokala","sequence":"first","affiliation":[{"name":"PT Health Economics Ltd., Sheffield S7 1RH, UK"},{"name":"Sheffield Centre for Health and Related Research (SCHARR), University of Sheffield, Regent Court, 30 Regent Street, Sheffield S1 4DA, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7677-0309","authenticated-orcid":false,"given":"Alice","family":"Bessey","sequence":"additional","affiliation":[{"name":"Sheffield Centre for Health and Related Research (SCHARR), University of Sheffield, Regent Court, 30 Regent Street, Sheffield S1 4DA, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5490-7682","authenticated-orcid":false,"given":"Rachel","family":"Knowles","sequence":"additional","affiliation":[{"name":"Population, Policy and Practice Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6239-774X","authenticated-orcid":false,"given":"John","family":"Marshall","sequence":"additional","affiliation":[{"name":"UK National Screening Committee Secretariat, Department of Health and Social Care, 39 Victoria Street, London SW1H 0EU, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-4250-2924","authenticated-orcid":false,"given":"Cristina","family":"Visintin","sequence":"additional","affiliation":[{"name":"UK National Screening Committee Secretariat, Department of Health and Social Care, 39 Victoria Street, London SW1H 0EU, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miranda","family":"Lawton","sequence":"additional","affiliation":[{"name":"UK National Screening Committee Secretariat, Department of Health and Social Care, 39 Victoria Street, London SW1H 0EU, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3669-4707","authenticated-orcid":false,"given":"Silvia","family":"Lombardo","sequence":"additional","affiliation":[{"name":"UK National Screening Committee Secretariat, Department of Health and Social Care, 39 Victoria Street, London SW1H 0EU, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.tins.2020.11.009","article-title":"Spinal Muscular Atrophy: In the Challenge Lies a Solution","volume":"44","author":"Wirth","year":"2021","journal-title":"Trends Neurosci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30251","article-title":"Homozygous SMN1 Deletions in Unaffected Family Members and Modification of the Phenotype by SMN2","volume":"130A","author":"Prior","year":"2004","journal-title":"Am. 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