{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T08:45:20Z","timestamp":1789202720468,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,17]],"date-time":"2023-03-17T00:00:00Z","timestamp":1679011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["JR19\/00030 PI JFVC"],"award-info":[{"award-number":["JR19\/00030 PI JFVC"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003359","name":"Generalitat Valenciana","doi-asserted-by":"publisher","award":["EMERGENTES\/CIGE2021\/055"],"award-info":[{"award-number":["EMERGENTES\/CIGE2021\/055"]}],"id":[{"id":"10.13039\/501100003359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction\/Aims<\/jats:title><jats:p>Risdiplam has been approved for the treatment of patients with 5q spinal muscular atrophy (SMA), but data from type 2 non\u2010sitter patients are lacking. In this study we describe our experience regarding the use of risdiplam in a series of type 2 non\u2010sitter patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Type 2 SMA patients over 16\u2009years of age were administered risdiplam through the expanded access program (NCT04256265). Patients were followed\u2010up with a battery of scales and clinical measures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Six non\u2010sitter patients (17 to 46\u2009years old) were treated with risdiplam. One patient reported mild adverse events (dyspepsia and headache). After 1\u2009year of treatment, all patients showed clinically meaningful improvements in at least one scale and none of them showed any clinically meaningful deterioration. Two patients showed a clinically meaningful increase in body mass index (&gt;5%) and two others scored higher on the Revised Upper Limb Module (&gt;2 points). Moreover, five patients had clinically meaningful improvements on the Egen Klassifikation 2 scale (&gt;2 points), including the motor (axial and upper limbs), bulbar (speech and swallowing), and respiratory (coughing) domains. Four subjects achieved at least one of the goals set with the Goal Attainment Scale (GAS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This series suggests that risdiplam is safe and may be effective in non\u2010sitter SMA patients older than 16\u2009years of age. In these patients, functional scales and the GAS would be more sensitive than motor scales to detect changes, because they include axial, bulbar, and respiratory domains. Larger studies are needed to confirm these results.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.27804","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T13:38:25Z","timestamp":1677159505000},"page":"407-411","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Risdiplam in non\u2010sitter patients aged 16\u2009years and older with 5q spinal muscular atrophy"],"prefix":"10.1002","volume":"67","author":[{"given":"Nancy Carolina","family":"\u00d1ungo Garz\u00f3n","sequence":"first","affiliation":[{"name":"Neuromuscular Unit Hospital Universitario y Polit\u00e9cnico la Fe, Instituto de Investigaci\u00f3n Sanitaria la Fe  Val\u00e8ncia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Val\u00e8ncia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inmaculada","family":"Pitarch Castellano","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Hospital Universitario y Polit\u00e9cnico la Fe, Instituto de Investigaci\u00f3n Sanitaria la Fe  Val\u00e8ncia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Val\u00e8ncia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Sevilla","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Hospital Universitario y Polit\u00e9cnico la Fe, Instituto de Investigaci\u00f3n Sanitaria la Fe  Val\u00e8ncia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Val\u00e8ncia Spain"},{"name":"Department of Medicine Universitat de Val\u00e8ncia  Val\u00e8ncia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3043-7938","authenticated-orcid":false,"given":"Juan Francisco","family":"V\u00e1zquez\u2010Costa","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit Hospital Universitario y Polit\u00e9cnico la Fe, Instituto de Investigaci\u00f3n Sanitaria la Fe  Val\u00e8ncia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Val\u00e8ncia Spain"},{"name":"Department of Medicine Universitat de Val\u00e8ncia  Val\u00e8ncia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40265\u2010020\u201001410\u2010z"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.jmedchem.8b00741"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(21)00367\u20107"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND\u2010200534"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25430"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.33588\/rn.6010.2015007"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/17482968.2010.489115"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15501"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/0269215508101742"},{"key":"e_1_2_12_11_1","first-page":"28","article-title":"The clinical global impressions scale: applying a research tool in clinical practice","volume":"4","author":"Busner J","year":"2007","journal-title":"Psychiatry (Edgmont)"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010022\u201002420\u20108"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ACN3.51560"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51281"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318271f7e4"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.373"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14780"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.15542"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/ENE.15522"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010020\u201009847\u20108"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474\u20104422(20)30037\u20105"}],"container-title":["Muscle &amp; 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