{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,9]],"date-time":"2026-11-09T07:49:48Z","timestamp":1794210588347,"version":"4.8.0"},"reference-count":40,"publisher":"BMJ","issue":"12","funder":[{"name":"Luminesce Alliance","award":["No Grant\/Award number"],"award-info":[{"award-number":["No Grant\/Award number"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Neurol Neurosurg Psychiatry"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To assess cost-effectiveness of newborn screening (NBS) for spinal muscular atrophy (SMA) and early treatment with nusinersen or onasemnogene abeparvovec (gene therapy), compared with nusinersen without SMA screening.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Informed by an Australian state-wide SMA NBS programme, a decision analytical model nested with Markov models was constructed to evaluate costs and quality-adjusted life-years (QALYs) from a societal perspective with sensitivity analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>By treating one presymptomatic SMA infant with nusinersen or gene therapy, an additional 9.93 QALYs were gained over 60 years compared with late treatment in clinically diagnosed SMA. The societal cost was $9.8\u2009million for early nusinersen treatment, $4.4\u2009million for early gene therapy and $4.8\u2009million for late nusinersen treatment. Compared with late nusinersen treatment, early gene therapy would be dominant, gaining 9.93 QALYs while saving $360 000; whereas early nusinersen treatment would result in a discounted incremental cost-effectiveness ratio (ICER) of $507 000\/QALY.<\/jats:p><jats:p>At a population level, compared with no screening and late treatment with nusinersen, NBS and early gene therapy resulted in 0.00085 QALY gained over 60 years and saving $24 per infant screened (85 QALYs gained and $2.4\u2009million saving per 100\u2009000 infants screened). More than three quarters of simulated ICERs by probability sensitivity analyses showed NBS and gene therapy would be dominant or less than $50 000\/QALY, compared with no screening and late nusinersen treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>NBS coupled with gene therapy improves the quality and length of life for infants with SMA and would be considered value-for-money from an Australian clinical and policy context.<\/jats:p><\/jats:sec>","DOI":"10.1136\/jnnp-2021-326344","type":"journal-article","created":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T17:25:17Z","timestamp":1627493117000},"page":"1296-1304","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":71,"title":["Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis"],"prefix":"10.1136","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0049-2888","authenticated-orcid":false,"given":"Sophy TF","family":"Shih","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-0902","authenticated-orcid":false,"given":"Michelle Anne","family":"Farrar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Wiley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgina","family":"Chambers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,7,28]]},"reference":[{"key":"2022011011051739000_92.12.1296.1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24864"},{"key":"2022011011051739000_92.12.1296.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.05.067"},{"key":"2022011011051739000_92.12.1296.3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.134"},{"key":"2022011011051739000_92.12.1296.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.09.007"},{"key":"2022011011051739000_92.12.1296.5","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1007\/s40273-019-00769-6","article-title":"Cost effectiveness of nusinersen in the treatment of patients with infantile-onset and Later-Onset spinal muscular atrophy in Sweden","volume":"37","author":"Zuluaga-Sanchez","year":"2019","journal-title":"Pharmacoeconomics"},{"key":"2022011011051739000_92.12.1296.6","article-title":"Cost-Effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients","volume":"7","author":"Malone","year":"2019","journal-title":"J Mark Access Health Policy"},{"key":"2022011011051739000_92.12.1296.7","doi-asserted-by":"crossref","DOI":"10.1186\/s12962-020-00234-8","article-title":"Cost effectiveness of nusinersen for patients with infantile-onset spinal muscular atrophy in US","volume":"18","author":"Thokala","year":"2020","journal-title":"Cost Eff Resour Alloc"},{"key":"2022011011051739000_92.12.1296.8","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.jpeds.2020.07.033","article-title":"Cost-Effectiveness of nusinersen and universal newborn screening for spinal muscular atrophy","volume":"227","author":"Jalali","year":"2020","journal-title":"J Pediatr"},{"key":"2022011011051739000_92.12.1296.9","doi-asserted-by":"crossref","first-page":"S2","DOI":"10.1016\/j.jval.2020.04.010","article-title":"Cc2 cost-effectiveness analysis of newborn screening and treatment for spinal muscular atrophy","volume":"23","author":"Chen","year":"2020","journal-title":"Value in Health"},{"key":"2022011011051739000_92.12.1296.10","doi-asserted-by":"crossref","unstructured":"Arjunji R , Zhou J , Patel A , et al . PMU30 cost-effectiveness analysis of newborn screening for spinal muscular atrophy (SMA) in the United States. Value in Health 2020;23:S238. doi:10.1016\/j.jval.2020.04.805","DOI":"10.1016\/j.jval.2020.04.805"},{"key":"2022011011051739000_92.12.1296.11","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1038\/s41436-019-0673-0","article-title":"The implementation of newborn screening for spinal muscular atrophy: the Australian experience","volume":"22","author":"Kariyawasam","year":"2020","journal-title":"Genet Med"},{"key":"2022011011051739000_92.12.1296.12","unstructured":"New Soutn Wales Treasury . NSW Government Guidelines for Economic Appraisal, Treasury\u2019s Office of Financial Management, Editor. Policy & Guidelines Paper. Sydney, Australia, 2007."},{"key":"2022011011051739000_92.12.1296.13","first-page":"86","article-title":"Multicentre growth reference Study Group, who motor development study: windows of achievement for six gross motor development milestones","volume":"450","year":"2006","journal-title":"Acta Paediatr Suppl"},{"key":"2022011011051739000_92.12.1296.14","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2016-314292"},{"key":"2022011011051739000_92.12.1296.15","unstructured":"Ellis A et al . Spinraza\u00ae and Zolgensma\u00ae for Spinal Muscular Atrophy: Effectiveness and Value - Final Evidence Report. Institute for Clinical and Economic Review, 2019."},{"key":"2022011011051739000_92.12.1296.16","doi-asserted-by":"crossref","unstructured":"Strauss KA et al . Onasemnogene Abeparvovec-xioi Gene-Replacement therapy in presymptomatic spinal muscular atrophy: SPR1NT study update (2384). Neurology 2020;94:2384.","DOI":"10.1212\/WNL.94.15_supplement.2384"},{"key":"2022011011051739000_92.12.1296.17"},{"key":"2022011011051739000_92.12.1296.18","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1710504"},{"key":"2022011011051739000_92.12.1296.19","doi-asserted-by":"crossref","unstructured":"SMA \u2013 therapy: P.266 nusinersen in infantile-onset spinal muscular atrophy: results from longer-term treatment from the open-label shine extension study. Neuromuscular disorders 2020;30.doi:10.1016\/j.nmd.2020.08.265","DOI":"10.1016\/j.nmd.2020.08.265"},{"key":"2022011011051739000_92.12.1296.20","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000741"},{"key":"2022011011051739000_92.12.1296.21","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0201004","article-title":"Prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy: baseline data NatHis-SMA study","volume":"13","author":"Chabanon","year":"2018","journal-title":"PLoS One"},{"key":"2022011011051739000_92.12.1296.22","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1212\/WNL.0000000000009715","article-title":"Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy","volume":"95","author":"Chambers","year":"2020","journal-title":"Neurology"},{"key":"2022011011051739000_92.12.1296.23","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01498-2","article-title":"Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the cure SMA community update survey","volume":"15","author":"Belter","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"2022011011051739000_92.12.1296.24","first-page":"113","article-title":"Zolgensma - one-time gene therapy for spinal muscular atrophy","volume":"61","year":"2019","journal-title":"Med Lett Drugs Ther"},{"key":"2022011011051739000_92.12.1296.25","unstructured":"Commonwealth of Australian Department of Health . Medicare benefit schedule book. Canberra, 2018."},{"key":"2022011011051739000_92.12.1296.26","unstructured":"Independent Hospital Pricing Authority . National efficient price determination 2019-20, 2019."},{"key":"2022011011051739000_92.12.1296.27","unstructured":"Commonwealth of Australian Department of Health . Phrmaceutical benefits scheme. Canberra, Australia, 2018."},{"key":"2022011011051739000_92.12.1296.28","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-021-01695-7","article-title":"Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments","volume":"16","author":"Dangouloff","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"2022011011051739000_92.12.1296.29","first-page":"50","article-title":"Nusinersen (Spinraza) for spinal muscular atrophy","volume":"59","year":"2017","journal-title":"Med Lett Drugs Ther"},{"key":"2022011011051739000_92.12.1296.30","unstructured":"Organisation for Economic Co-operation and Development (OECD) . Purchasing power parities (ppp), 2020. Available: https:\/\/data.oecd.org\/conversion\/purchasing-power-parities-ppp.htm [Accessed Jul 2020]."},{"key":"2022011011051739000_92.12.1296.31","unstructured":"Canadian Agency for Drugs and Technologies in Health (CADTH) . CADTH common drug review pharmacoeconomic review report for nusinersen. Canadian Agency for Drugs and Technologies in Health (CADTH), 2018."},{"key":"2022011011051739000_92.12.1296.32","unstructured":"Pharmaceutical Benefits Scheme (PBS) . Public summary document \u2013 nusinersen. Pharmaceutical Benefits Advisory Committee (PBAC), 2018."},{"key":"2022011011051739000_92.12.1296.33","unstructured":"Tappenden P et al . Nusinersen for treating spinal muscular atrophy: a single technology appraisal. Sheffield, UK: School of Health and Related Research (ScHARR), University of Sheffield, 2018."},{"key":"2022011011051739000_92.12.1296.34","doi-asserted-by":"crossref","first-page":"A725","DOI":"10.1016\/j.jval.2017.08.1962","article-title":"The utility of different Approachs to developing health utilities data in childhood rare diseases \u2013 a case study in spinal muscular atrophy (SMA)","volume":"20","author":"Thompson","year":"2017","journal-title":"Value in Health"},{"key":"2022011011051739000_92.12.1296.35","doi-asserted-by":"crossref","first-page":"615","DOI":"10.2147\/CEOR.S214084","article-title":"Estimation of the quality of life benefits associated with treatment for spinal muscular atrophy","volume":"11","author":"Lloyd","year":"2019","journal-title":"Clinicoecon Outcomes Res"},{"key":"2022011011051739000_92.12.1296.36","unstructured":"Institute for Clinical and Economic Review (ICER) . Modifications to the ICER value assessment framework for treatments for ultra-rare diseases, 2019. Available: https:\/\/icer.org\/wp-content\/uploads\/2020\/10\/ICER-Adaptations-of-Value-Framework-for-Rare-Diseases.pdf"},{"key":"2022011011051739000_92.12.1296.37","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1093\/brain\/awaa020","article-title":"Long-term post-mortem studies following neurturin gene therapy in patients with advanced Parkinson's disease","volume":"143","author":"Chu","year":"2020","journal-title":"Brain"},{"key":"2022011011051739000_92.12.1296.38","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.01.003"},{"key":"2022011011051739000_92.12.1296.39","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.jval.2019.03.012","article-title":"Analytic considerations in applying a general economic evaluation reference case to gene therapy","volume":"22","author":"Drummond","year":"2019","journal-title":"Value Health"},{"key":"2022011011051739000_92.12.1296.40","first-page":"793","article-title":"Value-Based pricing for emerging gene therapies: the economic case for a higher cost-effectiveness threshold","volume":"25","author":"Garrison","year":"2019","journal-title":"J Manag Care Spec Pharm"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp-2021-326344","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T07:48:54Z","timestamp":1725522534000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp-2021-326344"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,28]]},"references-count":40,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2021,11,16]]},"published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1136\/jnnp-2021-326344"],"URL":"https:\/\/doi.org\/10.1136\/jnnp-2021-326344","relation":{},"ISSN":["0022-3050","1468-330X"],"issn-type":[{"value":"0022-3050","type":"print"},{"value":"1468-330X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,28]]}}}