{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:10:29Z","timestamp":1790172629701,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T00:00:00Z","timestamp":1612396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013223","name":"PTC Therapeutics","doi-asserted-by":"publisher","award":["NCT02758626"],"award-info":[{"award-number":["NCT02758626"]}],"id":[{"id":"10.13039\/100013223","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100001605","name":"Epilepsy Foundation","doi-asserted-by":"publisher","award":["NCT02758626"],"award-info":[{"award-number":["NCT02758626"]}],"id":[{"id":"10.13039\/100001605","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009712","name":"Dravet Syndrome Foundation","doi-asserted-by":"publisher","award":["NCT02758626"],"award-info":[{"award-number":["NCT02758626"]}],"id":[{"id":"10.13039\/100009712","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007321","name":"Finding A Cure for Epilepsy and Seizures","doi-asserted-by":"publisher","award":["NCT02758626"],"award-info":[{"award-number":["NCT02758626"]}],"id":[{"id":"10.13039\/100007321","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":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Ataluren is a compound that reads through premature stop codons and increases protein expression by increasing translation without modifying transcription or mRNA stability. We investigated the safety and efficacy of ataluren in children with nonsense variants causing Dravet Syndrome (DS) and CDKL5 Deficiency Syndrome (CDD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This single\u2010center double\u2010blind, placebo\u2010controlled crossover trial randomized subjects to receive ataluren or placebo for 12\u00a0weeks (period 1), a 4\u2010week washout, then another 12\u2010week treatment (period 2). The primary outcome was ataluren\u2019s safety profile. The secondary outcome measures were (1) changes in convulsive and\/or drop seizure frequency and (2) changes in minor seizure types during ataluren treatment compared to placebo. Exploratory objectives assessed changes in cognitive, motor, and behavioral function as well as quality of life during ataluren therapy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We enrolled seven subjects with DS and eight subjects with CDD. Three treatment\u2010related adverse events (AE) occurred during the blinded phases. Two subjects withdrew due to AE. Ataluren was not effective in reducing seizure frequency or improving cognitive, motor, or behavioral function or quality of life in subjects with either DS or CDD due to nonsense variants. Limitations included a small sample size and 12\u2010week treatment phase, possibly too short to identify a disease\u2010modifying effect.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>There was no difference between ataluren and placebo; ataluren is not an effective therapy for seizures or other disorders in children with DS or CDD due to nonsense variants. There were no drug\u2010related serious AE during the double\u2010blind period, consistent with ataluren\u2019s favorable safety profile in larger studies. (Funded by Epilepsy Foundation, Dravet Syndrome Foundation, Finding A Cure for Seizures and Epilepsy and PTC Therapeutics, Inc.; ClinicalTrials.gov number, NCT02758626).<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51306","type":"journal-article","created":{"date-parts":[[2021,2,7]],"date-time":"2021-02-07T10:56:30Z","timestamp":1612695390000},"page":"639-644","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Ataluren for drug\u2010resistant epilepsy in nonsense variant\u2010mediated Dravet syndrome and CDKL5 deficiency disorder"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0044-4632","authenticated-orcid":false,"given":"Orrin","family":"Devinsky","sequence":"first","affiliation":[{"name":"Department of Neurology NYU Langone Comprehensive Epilepsy Center NYU Grossman School of Medicine New York New York 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