{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T13:03:48Z","timestamp":1784120628659,"version":"3.55.0"},"reference-count":12,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,6,26]]},"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by SMN1 gene mutations. The introduction of disease-modifying therapies such as nusinersen has improved survival and functional outcomes allowing more patients to reach reproductive age. However, data on the safety of nusinersen use during pregnancy remain limited. Here, we report the first documented case in the USA of a woman with SMA type 3 who elected to discontinue nusinersen during pregnancy. Her pregnancy and delivery were uncomplicated, and she experienced mild functional decline with nusinersen therapy interruption that stabilised after postpartum resumption of therapy. This case aligns with prior international reports describing reversible clinical declines in motor function during treatment interruption. These findings highlight the importance of individualised, multidisciplinary care and underscore the need for prospective studies to guide reproductive counselling and therapy management in SMA.<\/jats:p>","DOI":"10.1136\/bcr-2026-273468","type":"journal-article","created":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T12:05:43Z","timestamp":1784117143000},"page":"e273468","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Managing nusinersen therapy during pregnancy in spinal muscular atrophy type 3"],"prefix":"10.1136","volume":"19","clinical-trial-number":[{"clinical-trial-number":"nct01703988","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct02594124","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct05789758","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4478-660X","authenticated-orcid":false,"given":"Leillani L","family":"Ha","sequence":"first","affiliation":[{"name":"Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA"},{"name":"Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin","family":"Thomas","sequence":"additional","affiliation":[{"name":"Sean M Healey & AMG Center for ALS, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiersten","family":"Pease","sequence":"additional","affiliation":[{"name":"Sean M Healey & AMG Center for ALS, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendall","family":"Carney","sequence":"additional","affiliation":[{"name":"Sean M Healey & AMG Center for ALS, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Ellrodt","sequence":"additional","affiliation":[{"name":"Sean M Healey & AMG Center for ALS, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sydney","family":"Hall","sequence":"additional","affiliation":[{"name":"Sean M Healey & AMG Center for ALS, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marti","family":"Soffer","sequence":"additional","affiliation":[{"name":"Obstetrics, Gynecology and Reproductive Biology, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"Laine","sequence":"additional","affiliation":[{"name":"Neurology, Boston Children\u2019s Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Hayes","sequence":"additional","affiliation":[{"name":"Neurology, Boston Children\u2019s Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiano R R","family":"Alves","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA"},{"name":"Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doreen","family":"Ho","sequence":"additional","affiliation":[{"name":"Sean M Healey & AMG Center for ALS, Massachusetts General Hospital, Boston, Massachusetts, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,7,15]]},"reference":[{"key":"2026071505051668000_19.7.e273468.1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2018.4"},{"key":"2026071505051668000_19.7.e273468.2","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1212\/CON.0000000000001069","article-title":"Neuromuscular Disorders and Pregnancy","volume":"28","author":"Massey","year":"2022","journal-title":"Continuum (Minneap Minn)"},{"key":"2026071505051668000_19.7.e273468.3","unstructured":"Biogen Inc . Nusinersen [package insert]. DailyMed. 2025. Available: https:\/\/dailymed.nlm.nih.gov\/dailymed\/drugInfo.cfm?setid=dd70cd5f-b0fc-4ba4-a5ea-89a34778bd94"},{"key":"2026071505051668000_19.7.e273468.4","unstructured":"Novartis Gene Therapies Inc . Onasemnogene abeparvovec-xioi [package insert]. DailyMed. 2025. Available: https:\/\/dailymed.nlm.nih.gov\/dailymed\/drugInfo.cfm?setid=68cd4f06-70e1-40d8-bedb-609ec0afa471"},{"key":"2026071505051668000_19.7.e273468.5","unstructured":"Genentech Inc . Risdiplam [package insert]. DailyMed. 2025. Available: https:\/\/dailymed.nlm.nih.gov\/dailymed\/drugInfo.cfm?setid=eceb9a99-7191-4be5-87c3-0102707cf98e"},{"key":"2026071505051668000_19.7.e273468.6","unstructured":"Spectrum Health, IQVIA . Evrysdi (risdiplam) pregnancy registry: spinal muscular atrophy clinical research study information. 2022."},{"key":"2026071505051668000_19.7.e273468.7","unstructured":"Novartis Gene Therapies Inc . Itvisma [package insert]. DailyMed. 2025. Available: https:\/\/dailymed.nlm.nih.gov\/dailymed\/lookup.cfm?setid=ab2e1c6c-4f95-4243-9296-1734e0a30591"},{"key":"2026071505051668000_19.7.e273468.8","doi-asserted-by":"crossref","DOI":"10.1186\/s12883-024-04005-3","article-title":"Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report","volume":"25","author":"Hiebeler","year":"2025","journal-title":"BMC Neurol"},{"key":"2026071505051668000_19.7.e273468.9","doi-asserted-by":"crossref","first-page":"1803","DOI":"10.1007\/s10072-023-06618-x","article-title":"Nusinersen treatment in a type 3 spinal muscular atrophy patient during early pregnancy","volume":"44","author":"Sch\u00f6n","year":"2023","journal-title":"Neurol Sci"},{"key":"2026071505051668000_19.7.e273468.10","doi-asserted-by":"crossref","DOI":"10.3390\/jcm13237366","article-title":"The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy","volume":"13","author":"Stawicka","year":"2024","journal-title":"J Clin Med"},{"key":"2026071505051668000_19.7.e273468.11","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0003-9993(94)90401-4","article-title":"Successful pregnancies in the presence of spinal muscular atrophy: two case reports","volume":"75","author":"Carter","year":"1994","journal-title":"Arch Phys Med Rehabil"},{"key":"2026071505051668000_19.7.e273468.12","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jns.2018.03.001","article-title":"Pregnancy outcomes in women with spinal muscular atrophy: A review","volume":"388","author":"Abati","year":"2018","journal-title":"J Neurol Sci"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-273468","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T12:05:49Z","timestamp":1784117149000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-273468"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":12,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2026,7,15]]},"published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1136\/bcr-2026-273468"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-273468","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]}}}