{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T15:48:32Z","timestamp":1790351312538,"version":"4.1.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,5,14]],"date-time":"2022-05-14T00:00:00Z","timestamp":1652486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004328","name":"Genentech","doi-asserted-by":"publisher","award":["GPP3"],"award-info":[{"award-number":["GPP3"]}],"id":[{"id":"10.13039\/100004328","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>The US risdiplam expanded access program (EAP; NCT04256265) was opened to provide individuals with Type 1 or 2 spinal muscular atrophy (SMA) who had no satisfactory treatment options access to risdiplam prior to commercial availability. The program was designed to collect safety data during risdiplam treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients were enrolled from 23 non\u2010preselected sites across 17 states and treated with risdiplam orally once daily. Eligible patients had a 5q autosomal recessive Type 1 or 2 SMA diagnosis, were aged \u22652\u2009months at enrollment, and were ineligible for available and approved SMA treatments or could not continue treatment due to a medical condition, lack\/loss of efficacy, or the COVID\u201019 pandemic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, 155 patients with Type 1 (<jats:italic>n<\/jats:italic>\u2009=\u200973; 47.1%) or 2 SMA (<jats:italic>n<\/jats:italic>\u2009=\u200982; 52.9%) were enrolled and 149 patients (96.1%) completed the EAP (defined as obtaining access to commercial risdiplam, if desired). The median treatment duration was 4.8\u2009months (range, 0.3\u20139.2\u2009months). The median patient age was 11\u2009years (range, 0\u201350\u2009years), and most patients (<jats:italic>n<\/jats:italic>\u2009=\u2009121; 78%) were previously treated with a disease\u2010modifying therapy. The most frequently reported adverse events were diarrhea (<jats:italic>n<\/jats:italic>\u2009=\u200910; 6.5%), pyrexia (<jats:italic>n<\/jats:italic>\u2009=\u20097; 4.5%), and upper respiratory tract infection (<jats:italic>n<\/jats:italic>\u2009=\u20095; 3.2%). The most frequently reported serious adverse event was pneumonia (<jats:italic>n<\/jats:italic>\u2009=\u20093; 1.9%). No deaths were reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>In the EAP, the safety profile of risdiplam was similar to what was reported in pivotal risdiplam clinical trials. These safety data provide further support for the use of risdiplam in the treatment of adult and pediatric patients with SMA.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51560","type":"journal-article","created":{"date-parts":[[2022,5,14]],"date-time":"2022-05-14T10:57:40Z","timestamp":1652525860000},"page":"810-818","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["An expanded access program of risdiplam for patients with Type 1 or 2 spinal muscular atrophy"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7720-2490","authenticated-orcid":false,"given":"Jennifer M.","family":"Kwon","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology University of Wisconsin\u2010Madison School of Medicine and Public Health  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kapil","family":"Arya","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Kuntz","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han C.","family":"Phan","sequence":"additional","affiliation":[{"name":"Rare Disease Research, LLC  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cory","family":"Sieburg","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology University of Wisconsin\u2010Madison School of Medicine and Public Health  Madison Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn J.","family":"Swoboda","sequence":"additional","affiliation":[{"name":"Department of Neurology Massachusetts General Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3065-3956","authenticated-orcid":false,"given":"Aravindhan","family":"Veerapandiyan","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Arkansas Children's Hospital University of Arkansas for Medical Sciences  Little Rock Arkansas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly","family":"Assman","sequence":"additional","affiliation":[{"name":"Genentech  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Bader\u2010Weder","sequence":"additional","affiliation":[{"name":"F. Hoffmann\u2010La Roche Ltd  Basel Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Travis L.","family":"Dickendesher","sequence":"additional","affiliation":[{"name":"Genentech  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Hansen","sequence":"additional","affiliation":[{"name":"Genentech  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Lin","sequence":"additional","affiliation":[{"name":"Genentech  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Yan","sequence":"additional","affiliation":[{"name":"Genentech  South San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0130-2292","authenticated-orcid":false,"given":"Vamshi K.","family":"Rao","sequence":"additional","affiliation":[{"name":"Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago Northwestern University Feinberg School of Medicine  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"US Expanded Access Program Working Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,5,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90460-3"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.11.6307"},{"key":"e_1_2_8_4_1","volume-title":"Swaiman's Pediatric Neurology: Principles and Practice","author":"Darras 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