{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T21:44:55Z","timestamp":1792878295240,"version":"4.5.0"},"reference-count":36,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Spinal muscular atrophy is a rare, genetic neuromuscular disorder. Disease-modifying therapies, when administered early, have shown improved outcomes, leading to the implementation of numerous newborn screening programs for spinal muscular atrophy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The aim of this study was to evaluate the progress in implementing newborn screening for spinal muscular atrophy and therapy accessibility worldwide, after the first paper published in 2021.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a survey, contacted experts from 143 countries worldwide, gathered responses from 86 experts from 80 countries.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>By 2023, 31 countries reported established programs, 33 in the beginning of the year 2024; identifying approximately 1176 cases of spinal muscular atrophy. Additionally, the availability of disease-modifying therapies has expanded. At least one therapy is now accessible in 62 countries. Challenges, such as lack of governmental support, resource constraints, and varying healthcare priorities continue to impede implementation in some countries.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The data shows a significant increase in the implementation of newborn screening programs since 2021. The experts are still expressing a strong need for equitable access to standard of care for all the patients globally. Despite all setbacks, collaborative efforts have played a crucial role in newborn screening for spinal muscular atrophy implementation and currently 7% of world newborns are being screened, projections indicate an estimated 18% screening rate by 2028.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602241288095","type":"journal-article","created":{"date-parts":[[2025,1,31]],"date-time":"2025-01-31T07:33:36Z","timestamp":1738308816000},"page":"1180-1189","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":50,"title":["Newborn screening programs for spinal muscular atrophy worldwide in 2023"],"prefix":"10.1177","volume":"11","author":[{"given":"Eva","family":"Vr\u0161\u010daj","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology, University Children\u2019s Hospital, University Medical Centre Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara","family":"Dangouloff","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, University Hospital Li\u00e8ge &amp; University of Li\u00e8ge, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damjan","family":"Osredkar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, University Children\u2019s Hospital, University Medical Centre Ljubljana, Slovenia"},{"name":"Medical Faculty, University of Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Servais","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, University Hospital Li\u00e8ge &amp; University of Li\u00e8ge, Belgium"},{"name":"MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the SMA NBS World Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,11]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes14071377"},{"key":"e_1_3_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2019.104851"},{"key":"e_1_3_5_4_2","doi-asserted-by":"publisher","DOI":"10.1080\/14656566.2019.1704732"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-022-01866-4"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2019.09.007"},{"key":"e_1_3_5_7_2","first-page":"585","article-title":"RAINBOWFISH: preliminary Efficacy and Safety Data in Risdiplam-Treated Infants with Presymptomatic SMA (P17-5.003)","volume":"98","author":"Finkel RS","unstructured":"Finkel RS, Farrar MA, Vlodavets D, et al. 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