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Hoffmann-La Roche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007013","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Neurol"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:sec>\n                <jats:title>Abstract<\/jats:title>\n                <jats:p>Risdiplam is a once-daily oral, survival of motor neuron 2 (<jats:italic>SMN2<\/jats:italic>) splicing modifier approved for the treatment of spinal muscular atrophy (SMA). JEWELFISH (NCT03032172) investigated the safety, tolerability, pharmacokinetics (PK), and PK\/pharmacodynamic (PD) relationship of risdiplam in non-treatment-na\u00efve patients with SMA. JEWELFISH enrolled adult and pediatric patients (<jats:italic>N<\/jats:italic>\u2009=\u2009174) with confirmed diagnosis of 5q-autosomal recessive SMA who had previously received treatment with nusinersen (<jats:italic>n<\/jats:italic>\u2009=\u200976), onasemnogene abeparvovec (<jats:italic>n<\/jats:italic>\u2009=\u200914), olesoxime (<jats:italic>n<\/jats:italic>\u2009=\u200971), or were enrolled in the MOONFISH study (NCT02240355) of the splicing modifier RG7800 (<jats:italic>n<\/jats:italic>\u2009=\u200913). JEWELFISH was an open-label study with all participants scheduled to receive risdiplam. The most common adverse event (AE) was pyrexia (42 patients, 24%) and the most common serious AE (SAE) was pneumonia (5 patients, 3%). The rate of AEs and SAEs decreased by\u2009&gt;\u200950% from the first to the second year of treatment, and there were no treatment-related AEs that led to withdrawal from treatment. An increase in SMN protein in blood was observed following risdiplam treatment and sustained over 24\u00a0months of treatment irrespective of previous treatment. Exploratory efficacy assessments of motor function showed an overall stabilization in mean total scores as assessed by the 32-item Motor Function Measure, Hammersmith Functional Motor Scale\u2014Expanded, and Revised Upper Limb Module. The safety profile of risdiplam in JEWELFISH was consistent with previous clinical trials of risdiplam in treatment-na\u00efve patients. Exploratory efficacy outcomes are reported but it should be noted that the main aim of JEWELFISH was to assess safety and PK\/PD, and the study was not designed for efficacy analysis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Trial registration<\/jats:title>\n                <jats:p>The study was registered (NCT03032172) on ClinicalTrials.gov on January 24, 2017; First patient enrolled: March 3, 2017.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-024-12318-z","type":"journal-article","created":{"date-parts":[[2024,5,11]],"date-time":"2024-05-11T06:01:51Z","timestamp":1715407311000},"page":"4871-4884","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["JEWELFISH: 24-month results from an open-label study in non-treatment-na\u00efve patients with SMA receiving treatment with risdiplam"],"prefix":"10.1007","volume":"271","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6088-4889","authenticated-orcid":false,"given":"Claudia A.","family":"Chiriboga","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Bruno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3177-4722","authenticated-orcid":false,"given":"Tina","family":"Duong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dirk","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9851-5365","authenticated-orcid":false,"given":"Eugenio","family":"Mercuri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1618-7386","authenticated-orcid":false,"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7309-1914","authenticated-orcid":false,"given":"Anna","family":"Kostera-Pruszczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Jaber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7510-1127","authenticated-orcid":false,"given":"Ksenija","family":"Gorni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8129-2196","authenticated-orcid":false,"given":"Heidemarie","family":"Kletzl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Imogen","family":"Carruthers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5400-562X","authenticated-orcid":false,"given":"Renata S.","family":"Scalco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3883-257X","authenticated-orcid":false,"given":"Paulo","family":"Fontoura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9102-5232","authenticated-orcid":false,"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the JEWELFISH Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,11]]},"reference":[{"key":"12318_CR1","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1038\/s41582-020-00413-4","volume":"16","author":"E Mercuri","year":"2020","unstructured":"Mercuri E, Pera MC, Scoto M, Finkel R, Muntoni F (2020) Spinal muscular atrophy \u2014 insights and challenges in the treatment era. 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Hoffmann-La Roche Ltd, received educational speaker fees from Biogen, F. Hoffmann-La Roche, and Genentech and received research support grants from AveXis\/Novartis, Biogen, F. Hoffmann-La Roche Ltd, and the National Institutes of Health. CB has received honoraria for scientific advisory boards from Biogen, Novartis, F. Hoffmann-La Roche Ltd, and Sarepta Therapeutics, and has received research support grants from Biogen. TD has received honoraria for scientific advisory boards or consultancy from Biogen, Novartis, F. Hoffmann-La Roche Ltd, Genentech, Pfizer, Sarepta Therapeutics, Audentes, Astellas, and Dyne. DF has received honoraria for scientific advisory boards or consultancy from F. Hoffmann-La Roche Ltd. EM has received honoraria for scientific advisory boards and educational speaker fees from Sarepta Therapeutics, Santhera, PTC Therapeutics, Pfizer, F. Hoffmann-La Roche Ltd, Biogen, Avexis, Novartis, Scholar Rock, and Cytokinetics, and has received research support grants from Biogen. JK has received honoraria for scientific advisory boards from Biogen, Novartis, PTC Therapeutics, Pfizer, F. Hoffmann-La Roche Ltd, and Sarepta Therapeutics and reports grants from Biogen, Novartis, and F. Hoffmann-La Roche Ltd. AKP has received compensation for participation at symposia, lectures, and scientific advisory boards from Biogen, F. Hoffmann-La Roche Ltd, AveXis\/Novartis, and PTC Therapeutics. She has also received institutional grant support from Biogen and is an investigator in SMA trials sponsored by F. Hoffmann-La Roche Ltd. BJ, KG, HK, CM, RSS, and PF are employees and shareholders of F. Hoffmann-La Roche Ltd, Basel, Switzerland. FM is member of the Pfizer Rare Disease Advisory Board and of Dyne Therapeutic SAB.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"This trial was approved by an ethics committee at each study site and was conducted in accordance with Good Clinical Practice guidelines and with the World Medical Association Declaration of Helsinki.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Written informed consent was obtained from the patient or from the patients\u2019 legally authorized representative before participating in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}}]}}