{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T20:36:06Z","timestamp":1793824566323,"version":"4.6.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T00:00:00Z","timestamp":1613001600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T00:00:00Z","timestamp":1613001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by Audic et al. in their analysis published in the Orphanet Journal of Rare Diseases.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We analyzed records of all children with a genetically diagnosed SMA and clinically confirmed diagnosis of SMA Type 1 or 2 to whom nusinersen was offered. Follow-up lasted 30\u00a0months.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Among the 17 children with SMA type 1, 6 interrupted treatment with nusinersen due to adverse events or lack of efficacy. Of the remaining 11 patients, 9 are responding to therapy, though multidisciplinary complex care is still required. All those children started nusinersen at a very early age.<\/jats:p>\n                <jats:p>Eighteen patients with SMA type 2 received nusinersen; five required treatment interruption. The other 13 patients are still on nusinersen therapy, and 6 are responders. Among the seven non-responders, only two met the inclusion criteria of the pivotal trial.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our analysis further supports the findings reported in the study by Audic et al. We believe that a wider use of nusinersen in clinical practice would require a comprehensive assessment of its actual benefits weighed against the discomfort caused to patients, as well as the identification of the patients who may obtain the best benefits from this treatment.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-020-01593-4","type":"journal-article","created":{"date-parts":[[2021,2,11]],"date-time":"2021-02-11T17:04:01Z","timestamp":1613063041000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Do we always need to treat patients with spinal muscular atrophy? A personal view and experience"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0584-8871","authenticated-orcid":false,"given":"Caterina","family":"Agosto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Salamon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antuan","family":"Divisic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Benedetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Giacomelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aashni","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Perilongo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franca","family":"Benini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,11]]},"reference":[{"key":"1593_CR1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.01.003","author":"CJJ Yeo","year":"2020","unstructured":"Yeo CJJ, Darras BT. Overturning the paradigm of spinal muscular atrophy as just a motor neuron disease. Pediatr Neurol. 2020. https:\/\/doi.org\/10.1016\/j.pediatrneurol.2020.01.003 ((Ahead of print)).","journal-title":"Pediatr Neurol"},{"key":"1593_CR2","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1212\/WNL.0000000000002445","volume":"86","author":"CA Chiriboga","year":"2016","unstructured":"Chiriboga CA, Swoboda KJ, Darras BT, Iannaccone ST, Montes J, De Vivo DC, et al. Results from a phase 1 study of nusinersen (ISIS-SMN (Rx)) in children with spinal muscular atrophy. Neurology. 2016;86:890\u20137.","journal-title":"Neurology"},{"key":"1593_CR3","doi-asserted-by":"publisher","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","volume":"388","author":"RS Finkel","year":"2016","unstructured":"Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet Lond Engl. 2016;388:3017\u201326.","journal-title":"Lancet Lond Engl"},{"key":"1593_CR4","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","volume":"377","author":"RS Finkel","year":"2017","unstructured":"Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med. 2017;377:1723\u201332.","journal-title":"N Engl J Med"},{"key":"1593_CR5","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1056\/NEJMoa1710504","volume":"378","author":"E Mercuri","year":"2018","unstructured":"Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, et al. Nusinersen versus sham control in later-onset spinal muscular atrophy. 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Eur J Paediatr Neurol EJPN. 2018;22:122\u20137.","journal-title":"Eur J Paediatr Neurol EJPN"},{"key":"1593_CR8","doi-asserted-by":"publisher","first-page":"e1312","DOI":"10.1212\/WNL.0000000000006281","volume":"91","author":"K Aragon-Gawinska","year":"2018","unstructured":"Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, et al. Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: a cohort study. Neurology. 2018;91:e1312\u20138.","journal-title":"Neurology"},{"key":"1593_CR9","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1212\/WNL.0000000000006502","volume":"91","author":"D Michelson","year":"2018","unstructured":"Michelson D, Ciafaloni E, Ashwal S, Lewis E, Narayanaswami P, Oskoui M, Armstrong MJ. Evidence in focus: nusinersen use in spinal muscular atrophy Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology. 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