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It is an antisense oligonucleotide that pairs with a specific locus of the\n                    <jats:italic toggle=\"yes\">Survival Motor Neuron 2 (SMN2)<\/jats:italic>\n                    gene, to modify splicing and generate an increase in full-length\n                    <jats:italic toggle=\"yes\">SMN2<\/jats:italic>\n                    transcript. This in turn increases expression of survival motor neuron protein, deficiency of which results in motor neuron dysfunction and reduced cellular survival, the principal cause of SMA. Pre-clinical studies of nusinersen in animal models of SMA demonstrated substantial clinical responses and proof-of-concept, leading to successful clinical trials in symptomatic children and then in infants. Nusinersen's favorable safety profile after repeated lumbar intrathecal delivery as well as improvement in motor function and survival resulted in US regulatory approval for SMA in 2016. Other countries have followed with variable coverage policies depending upon age, weight, genotype and\/or clinical severity. In the current treatment era, two populations of individuals with SMA exist: symptomatic patients identified in the clinic and pre-symptomatic patients (having no or few early clinical features of disease) largely identified by newborn screening. Real-world experience with nusinersen, the topic of this focused review, presents post-approval data in a broad range of patients beyond those studied in clinical trials. The favorable clinical response and safety profile are discussed, as well as the emerging new phenotypes of disease. Nusinersen, one of three FDA-approved drugs for SMA (as of 2025) remains an important therapeutic consideration for infants, children and adults with SMA.\n                  <\/jats:p>","DOI":"10.1177\/22143602251385045","type":"journal-article","created":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T13:40:20Z","timestamp":1761399620000},"page":"190-206","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Real-world evidence on nusinersen treatment of persons with SMA: a focused review"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1556-395X","authenticated-orcid":false,"given":"Susan E","family":"Matesanz","sequence":"first","affiliation":[{"name":"Perelman School of Medicine at the University of Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9351-7054","authenticated-orcid":false,"given":"Richard S","family":"Finkel","sequence":"additional","affiliation":[{"name":"St Jude Children's Research Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,10,25]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-022-00380-8"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.abb6871"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI124120"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.11.6307"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1086\/338627"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.01.003"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-265"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000741"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25101"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1995.00540290108025"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/87.4.707"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00284-5"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1090-3798(99)80015-4"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-160177"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510115"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14587"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1205"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000249142.82285.d6"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182020332"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005268"},{"key":"e_1_3_3_23_2","article-title":"Drug treatment for spinal muscular atrophy types II and III","volume":"4","author":"Wadman RI","year":"2012","unstructured":"Wadman RI, Bosboom WM, van der Pol WL, et al. 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