{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T17:16:04Z","timestamp":1782753364163,"version":"3.54.5"},"reference-count":55,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T00:00:00Z","timestamp":1711497600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec id=\"S0317167124000490_as1\">\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Spinal muscular atrophy (SMA) is a progressive genetic disorder characterized by muscle weakness ultimately leading to pulmonary impairments that can be fatal. The recent approval of nusinersen, a disease-modifying therapy, substantially changed the prognosis for patients, particularly in children. However, real-world evidence about its long-term effectiveness in adults remains limited. This study aimed to document longitudinal data on motor function, pulmonary function and patient-reported outcome measures of Canadian adults with SMA type 2 and 3 treated with nusinersen.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0317167124000490_as2\">\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>Outcomes from 17 patients were collected at the Institut de r\u00e9adaptation en d\u00e9ficience physique de Qu\u00e9bec during routine clinical visits over 36 months post nusinersen treatment, using the Hammersmith Functional Motor Scale Expanded for SMA (HFMSE), Revised Upper Limb Module (RULM), 6-Minute Walk Test (6MWT), Children\u2019s Hospital of Philadelphia Adult Test of Neuromuscular Disorders (CHOP-ATEND), SMA functional rating scale (SMAFRS), pulmonary function testing and subjective changes reported by patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0317167124000490_as3\">\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>After 36 months, 9 patients showed motor function improvement. Changes beyond the minimal clinically important difference were seen for four patients on the HFMSE, four patients on the RULM and five patients on the 6MWT. Pulmonary function remained stable for most subjects. Subjective positive changes were reported in 88% of patients and five patients showed improvement in the SMAFRS.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"S0317167124000490_as4\">\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>This real-world study demonstrates the positive effects of nusinersen in adults with SMA types 2 and 3. Although stabilizing the patient\u2019s condition is considered therapeutic success, this study shows an improvement in motor function and subjective gains in several patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1017\/cjn.2024.49","type":"journal-article","created":{"date-parts":[[2024,3,27]],"date-time":"2024-03-27T01:49:22Z","timestamp":1711504162000},"page":"119-128","source":"Crossref","is-referenced-by-count":11,"title":["A Real-World Study of Nusinersen Effects in Adults with Spinal Muscular Atrophy Type 2 and 3"],"prefix":"10.1017","volume":"52","author":[{"given":"Isabelle","family":"C\u00f4t\u00e9","sequence":"first","affiliation":[{"name":"Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux du Saguenay\u2013Lac-St-Jean"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5908-2694","authenticated-orcid":false,"given":"Victoria","family":"Hodgkinson","sequence":"additional","affiliation":[{"name":"University of Calgary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"Nury","sequence":"additional","affiliation":[{"name":"Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux de la Capitale-Nationale"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis","family":"Bastenier-Boutin","sequence":"additional","affiliation":[{"name":"Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux de la Capitale-Nationale"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4886-8840","authenticated-orcid":false,"given":"Xavier","family":"Rodrigue","sequence":"additional","affiliation":[{"name":"Centre int\u00e9gr\u00e9 universitaire de sant\u00e9 et de services sociaux de la Capitale-Nationale"},{"name":"Institut de r\u00e9adaptation en d\u00e9ficience physique de Qu\u00e9bec (IRDPQ)"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2024,3,27]]},"reference":[{"key":"S0317167124000490_ref5","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-265"},{"key":"S0317167124000490_ref19","unstructured":"19. Institut national d\u2019excellence en sant\u00e9 et en services sociaux. SPINRAZAMC\u2013Amyotrophie spinale 5q de type II, de type III et pr\u00e9symptomatique. 2018 December; Available from: https:\/\/www.inesss.qc.ca\/fileadmin\/doc\/INESSS\/Inscription_medicaments\/Avis_au_ministre\/Janvier_2019\/Spinraza_2018_12.pdf. Accessed February 9, 2024."},{"key":"S0317167124000490_ref10","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318271f7e4"},{"key":"S0317167124000490_ref26","doi-asserted-by":"publisher","DOI":"10.1111\/jnc.14953"},{"key":"S0317167124000490_ref6","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0671-8"},{"key":"S0317167124000490_ref36","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190453"},{"key":"S0317167124000490_ref49","doi-asserted-by":"publisher","DOI":"10.1177\/0883073811420294"},{"key":"S0317167124000490_ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.06.001"},{"key":"S0317167124000490_ref23","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000001033"},{"key":"S0317167124000490_ref30","doi-asserted-by":"publisher","DOI":"10.3233\/JND-200551"},{"key":"S0317167124000490_ref31","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000009914"},{"key":"S0317167124000490_ref35","doi-asserted-by":"publisher","DOI":"10.3233\/JND-190416"},{"key":"S0317167124000490_ref38","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2022.04.003"},{"key":"S0317167124000490_ref39","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-023-06698-9"},{"key":"S0317167124000490_ref41","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-023-02769-4"},{"key":"S0317167124000490_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.10.006"},{"key":"S0317167124000490_ref48","doi-asserted-by":"publisher","DOI":"10.3233\/JND-200617"},{"key":"S0317167124000490_ref14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1710504"},{"key":"S0317167124000490_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2015.07.004"},{"key":"S0317167124000490_ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.01.003"},{"key":"S0317167124000490_ref11","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26419"},{"key":"S0317167124000490_ref25","doi-asserted-by":"publisher","DOI":"10.1177\/1756286420907803"},{"key":"S0317167124000490_ref32","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-09847-8"},{"key":"S0317167124000490_ref18","unstructured":"18. Cabinet de la ministre de la Sant\u00e9 et des Services sociaux. Amyotrophie spinale 5q - La ministre McCann annonce que les personnes atteintes des types II et III de la maladie auront acc\u00e8s au m\u00e9dicament Spinraza(MC). 2018 [cited]; Available from: https:\/\/www.newswire.ca\/fr\/news-releases\/amyotrophie-spinale-5q---la-ministre-mccann-annonce-que-les-personnes-atteintes-des-types-ii-et-iii-de-la-maladie-auront-acces-au-medicament-spinrazamc-703073022.html. Accessed 2024 February."},{"key":"S0317167124000490_ref20","unstructured":"20. Canada\u2019s Drug and Health Technology Agency. CADTH Reimbursement Recommendation Nusinersen (Spinraza). 2022 August; Available from: https:\/\/www.cadth.ca\/sites\/default\/files\/DRR\/2022\/SR0713-Spinraza-Reassessment.pdf. Accessed February 9, 2024."},{"key":"S0317167124000490_ref8","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13534"},{"key":"S0317167124000490_ref21","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02065-z"},{"key":"S0317167124000490_ref24","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30037-5"},{"key":"S0317167124000490_ref28","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2020.12.006"},{"key":"S0317167124000490_ref15","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27187"},{"key":"S0317167124000490_ref29","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2020-323822"},{"key":"S0317167124000490_ref33","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51411"},{"key":"S0317167124000490_ref46","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.004"},{"key":"S0317167124000490_ref47","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2017.11.005"},{"key":"S0317167124000490_ref44","doi-asserted-by":"publisher","DOI":"10.3233\/JND-200538"},{"key":"S0317167124000490_ref50","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25430"},{"key":"S0317167124000490_ref37","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-022-01200-3"},{"key":"S0317167124000490_ref51","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25120"},{"key":"S0317167124000490_ref52","doi-asserted-by":"publisher","DOI":"10.1111\/jep.12629"},{"key":"S0317167124000490_ref3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.10.1531"},{"key":"S0317167124000490_ref54","doi-asserted-by":"publisher","DOI":"10.21037\/jtd.2016.08.16"},{"key":"S0317167124000490_ref17","unstructured":"17. Government of Canada. Regulatory Decision Summary for Spinraza. 2017; Available from: https:\/\/dhpp.hpfb-dgpsa.ca\/review-documents\/resource\/RDS00268. Accessed 2024 February."},{"key":"S0317167124000490_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"S0317167124000490_ref55","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11711-4"},{"key":"S0317167124000490_ref16","unstructured":"16. U.S. Food & Drug Administration. FDA approves first drug for spinal muscular atrophy. 2016; Available from: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-approves-first-drug-spinal-muscular-atrophy. Accessed 2024 February."},{"key":"S0317167124000490_ref53","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-017-0790-9"},{"key":"S0317167124000490_ref42","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2022.10.006"},{"key":"S0317167124000490_ref34","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26769"},{"key":"S0317167124000490_ref40","doi-asserted-by":"publisher","DOI":"10.3233\/JND-221600"},{"key":"S0317167124000490_ref13","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1702752"},{"key":"S0317167124000490_ref27","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-68051-w"},{"key":"S0317167124000490_ref43","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2023.08.005"},{"key":"S0317167124000490_ref1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1205"},{"key":"S0317167124000490_ref22","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-020-10223-9"},{"key":"S0317167124000490_ref45","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-018-9124-0"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167124000490","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T01:52:00Z","timestamp":1767837120000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167124000490\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,27]]},"references-count":55,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["S0317167124000490"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2024.49","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,27]]}}}