{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T17:52:30Z","timestamp":1790099550099,"version":"4.0.1"},"reference-count":31,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,8,15]],"date-time":"2024-08-15T00:00:00Z","timestamp":1723680000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Novartis Gene Therapies (Basel, Switzerland)","award":["78195981"],"award-info":[{"award-number":["78195981"]}]},{"name":"Novartis Gene Therapies (Basel, Switzerland)","award":["70703401"],"award-info":[{"award-number":["70703401"]}]},{"name":"Novartis Gene Therapies (Basel, Switzerland)","award":["EECD5D17"],"award-info":[{"award-number":["EECD5D17"]}]},{"name":"Novartis Gene Therapies (Basel, Switzerland)","award":["DP-2021-083"],"award-info":[{"award-number":["DP-2021-083"]}]},{"name":"Roche d.o.o. (Belgrade, Serbia)","award":["78195981"],"award-info":[{"award-number":["78195981"]}]},{"name":"Roche d.o.o. (Belgrade, Serbia)","award":["70703401"],"award-info":[{"award-number":["70703401"]}]},{"name":"Roche d.o.o. (Belgrade, Serbia)","award":["EECD5D17"],"award-info":[{"award-number":["EECD5D17"]}]},{"name":"Roche d.o.o. (Belgrade, Serbia)","award":["DP-2021-083"],"award-info":[{"award-number":["DP-2021-083"]}]},{"name":"Medis Pharma d.o.o. (Belgrade, Serbia)","award":["78195981"],"award-info":[{"award-number":["78195981"]}]},{"name":"Medis Pharma d.o.o. (Belgrade, Serbia)","award":["70703401"],"award-info":[{"award-number":["70703401"]}]},{"name":"Medis Pharma d.o.o. (Belgrade, Serbia)","award":["EECD5D17"],"award-info":[{"award-number":["EECD5D17"]}]},{"name":"Medis Pharma d.o.o. (Belgrade, Serbia)","award":["DP-2021-083"],"award-info":[{"award-number":["DP-2021-083"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJNS"],"abstract":"<jats:p>Innovative treatments for spinal muscular atrophy (SMA) yield the utmost advantages only within the presymptomatic phase, underlining the significance of newborn screening (NBS). We aimed to establish statewide NBS for SMA in Serbia. Our stepwise implementation process involved technical validation of a screening assay, collaboration with patient organizations and medical professionals, a feasibility study, and negotiation with public health representatives. Over 12,000 newborns were tested during the 17-month feasibility study, revealing two unrelated SMA infants and one older sibling. All three children received therapeutic interventions during the presymptomatic phase and have shown no signs of SMA. No false-negative results were found among the negative test results. As frontrunners in this field in Serbia, we established screening and diagnostic algorithms and follow-up protocols and raised awareness among stakeholders about the importance of early disease detection, leading to the incorporation of NBS for SMA into the national program on 15 September 2023. Since then, 54,393 newborns have been tested, identifying six SMA cases and enabling timely treatment. Our study demonstrates that effective collaborations between academia, non-profit organizations, and industry are crucial in bringing innovative healthcare initiatives to fruition, and highlights the potential of NBS to revolutionize healthcare outcomes for presymptomatic SMA infants and their families.<\/jats:p>","DOI":"10.3390\/ijns10030057","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T06:23:20Z","timestamp":1723789400000},"page":"57","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Our Journey from Individual Efforts to Nationwide Support: Implementing Newborn Screening for Spinal Muscular Atrophy in Serbia"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-9231","authenticated-orcid":false,"given":"Milo\u0161","family":"Brku\u0161anin","sequence":"first","affiliation":[{"name":"Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8194-6329","authenticated-orcid":false,"given":"Nemanja","family":"Garai","sequence":"additional","affiliation":[{"name":"Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6291-5527","authenticated-orcid":false,"given":"Jelena","family":"Karanovi\u0107","sequence":"additional","affiliation":[{"name":"Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2622-8284","authenticated-orcid":false,"given":"Tamara","family":"\u0160ljivan\u010danin Jakovljevi\u0107","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Obstetrics and Gynaecology Clinic Narodni Front, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandra","family":"Dimitrijevi\u0107","sequence":"additional","affiliation":[{"name":"Department of Gynecology and Obstetrics, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia"},{"name":"Gynaecology and Obstetrics Clinic, Clinical Centre of Kragujevac, 34000 Kragujevac, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3161-6967","authenticated-orcid":false,"given":"Kristina","family":"Jovanovi\u0107","sequence":"additional","affiliation":[{"name":"Neurology Department, University Children\u2019s Hospital, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja Lazi\u0107","family":"Mitrovi\u0107","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Obstetrics and Gynaecology Clinic Narodni Front, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u017deljko","family":"Mikovi\u0107","sequence":"additional","affiliation":[{"name":"High-Risk Pregnancy Unit, Obstetrics and Gynaecology Clinic Narodni Front, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3935-6755","authenticated-orcid":false,"given":"Goran","family":"Braju\u0161kovi\u0107","sequence":"additional","affiliation":[{"name":"Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4976-3116","authenticated-orcid":false,"given":"Dimitrije Mihailo","family":"Nikoli\u0107","sequence":"additional","affiliation":[{"name":"Neurology Department, University Children\u2019s Hospital, 11000 Belgrade, Serbia"},{"name":"Faculty of Medicine, University of Belgrade, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2079-4077","authenticated-orcid":false,"given":"Du\u0161anka","family":"Savi\u0107-Pavi\u0107evi\u0107","sequence":"additional","affiliation":[{"name":"Centre for Human Molecular Genetics, Faculty of Biology, University of Belgrade, 11000 Belgrade, Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1038\/344540a0","article-title":"Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2\u201313.3","volume":"344","author":"Brzustowicz","year":"1990","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum. Mutat."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1093\/hmg\/8.7.1177","article-title":"A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2","volume":"8","author":"Monani","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Schwarzer","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","article-title":"Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number","volume":"119","author":"Wirth","year":"2006","journal-title":"Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1038\/jhg.2015.104","article-title":"Joint effect of the SMN2 and SERF1A genes on childhood-onset types of spinal muscular atrophy in Serbian patients","volume":"60","author":"Romac","year":"2015","journal-title":"J. Hum. Genet."},{"key":"ref_8","unstructured":"U.S. Food and Drug Administration (2024, June 26). Available online: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-first-drug-spinal-muscular-atrophy."},{"key":"ref_9","unstructured":"U.S. Food and Drug Administration (2024, June 26). Available online: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-oral-treatment-spinal-muscular-atrophy."},{"key":"ref_10","unstructured":"U.S. Food and Drug Administration (2024, June 26). Available online: https:\/\/www.fda.gov\/vaccines-blood-biologics\/zolgensma."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"3578","DOI":"10.1093\/hmg\/ddr275","article-title":"Temporal requirement for high SMN expression in SMA mice","volume":"20","author":"Le","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1016\/j.ygeno.2015.01.007","article-title":"Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7","volume":"105","author":"Staropoli","year":"2015","journal-title":"Genomics"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"100725","DOI":"10.1016\/j.xcrm.2022.100725","article-title":"Timing is everything: Clinical evidence supports pre-symptomatic treatment for spinal muscular atrophy","volume":"3","author":"Motyl","year":"2022","journal-title":"Cell Rep. Med."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Pera, M.C., Coratti, G., Berti, B., D\u2019Amico, A., Sframeli, M., Albamonte, E., De Sanctis, R., Messina, S., Catteruccia, M., and Brigati, G. (2020). Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0230677"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.pediatrneurol.2015.06.002","article-title":"Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review","volume":"53","author":"Lin","year":"2015","journal-title":"Pediatr. Neurol."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Strunk, A., Abbes, A., Stuitje, A.R., Hettinga, C., Sepers, E.M., Snetselaar, R., Schouten, J., Asselman, F.L., Cuppen, I., and Lemmink, H. (2019). Validation of a Fast, Robust, Inexpensive, Two-Tiered Neonatal Screening Test algorithm on Dried Blood Spots for Spinal Muscular Atrophy. Int. J. Neonatal Screen., 5.","DOI":"10.3390\/ijns5020021"},{"key":"ref_17","unstructured":"(2024, August 13). MRC-Holland. Available online: https:\/\/www.mrcholland.com\/products\/34597\/Instructions%20for%20Use%20MC002-A%20SMA%20Newborn%20Screen-v09.pdf."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"9920","DOI":"10.1073\/pnas.94.18.9920","article-title":"Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos","volume":"94","author":"Schrank","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"339","DOI":"10.2174\/1389202919666180101154916","article-title":"Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates","volume":"19","author":"Maretina","year":"2018","journal-title":"Curr. Genom."},{"key":"ref_20","unstructured":"(2024, June 27). Official Gazette of the Republic of Serbia. Available online: http:\/\/www.pravno-informacioni-sistem.rs\/SlGlasnikPortal\/eli\/rep\/sgrs\/vlada\/drugiakt\/2019\/86\/1\/reg."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1007\/s00415-017-8549-1","article-title":"A multi-source approach to determine SMA incidence and research ready population","volume":"264","author":"Verhaart","year":"2017","journal-title":"J. Neurol."},{"key":"ref_22","unstructured":"Genentech (2024, June 27). Available online: https:\/\/www.gene.com\/media\/press-releases\/14955\/2022-05-30\/fda-approves-genentechs-evrysdi-risdipla."},{"key":"ref_23","unstructured":"Statistical Office of the Republic of Serbia (2024, June 27). Natural Changes of Population, Available online: https:\/\/data.stat.gov.rs\/Home\/Result\/180304?languageCode=en-US&displayMode=table&guid=0d48411b-7810-422b-a497-b9d807331058."},{"key":"ref_24","unstructured":"European Alliance for Newborn Screening in SMA (2024, June 27). Whitepaper\u2014Spinal Muscular Atrophy: Screen at Birth, Save Lives (Version 2, 25 November 2021). Available online: https:\/\/www.sma-screening-alliance.org\/resources."},{"key":"ref_25","unstructured":"(2024, June 27). CureSMA. Available online: https:\/\/www.curesma.org\/wp-content\/uploads\/2024\/01\/NBS_Maps_Screening_States_2024.pdf."},{"key":"ref_26","unstructured":"(2024, June 21). SMA NBS Alliance Status Map. Available online: https:\/\/www.sma-screening-alliance.org\/map."},{"key":"ref_27","first-page":"263","article-title":"Spinal muscular atrophy (5qSMA): Best practice of diagnostics, newborn screening and therapy","volume":"32","author":"Eggermann","year":"2020","journal-title":"Med. Genetik."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1340","DOI":"10.1086\/302369","article-title":"Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling","volume":"64","author":"Wirth","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1111\/cge.12222","article-title":"Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene","volume":"85","author":"Bernal","year":"2014","journal-title":"Clin. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"97","DOI":"10.3233\/JND-190468","article-title":"Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2","volume":"7","author":"Glascock","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Brku\u0161anin, M., Kosa\u0107, A., Brankovi\u0107-Sre\u0107kovi\u0107, V., Jovanovi\u0107, K., Peri\u0107, S., Karanovi\u0107, J., Matija\u0161evi\u0107 Jokovi\u0107, S., Garai, N., Pe\u0161ovi\u0107, J., and Nikoli\u0107, D. (2024). Phosphorylated neurofilament heavy chain in cerebrospinal fluid and plasma as a Nusinersen treatment response marker in childhood-onset SMA individuals from Serbia. Front. 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