{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:20:35Z","timestamp":1790252435890,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,5,21]],"date-time":"2022-05-21T00:00:00Z","timestamp":1653091200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013220","name":"Ultragenyx Pharmaceutical","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013220","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study was undertaken to evaluate efficacy and long\u2010term safety of triheptanoin in patients &gt;1\u00a0year old, not on a ketogenic diet, with drug\u2010resistant seizures associated with glucose transporter 1 deficiency syndrome (Glut1DS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>UX007G\u2010CL201 was a randomized, double\u2010blind, placebo\u2010controlled trial. Following a 6\u2010week baseline period, eligible patients were randomized 3:1 to triheptanoin or placebo. Dosing was titrated to 35% of total daily calories over 2\u00a0weeks. After an 8\u2010week placebo\u2010controlled period, all patients received open\u2010label triheptanoin through Week 52.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The study included 36 patients (15 children, 13 adolescents, eight adults). A median 12.6% reduction in overall seizure frequency was observed in the triheptanoin arm relative to baseline, and a 13.5% difference was observed relative to placebo (<jats:italic>p<\/jats:italic>\u00a0=\u00a0.58). In patients with absence seizures only (<jats:italic>n\u00a0<\/jats:italic>=\u00a09), a median 62.2% reduction in seizure frequency was observed in the triheptanoin arm relative to baseline. Only one patient with absence seizures only was present in the control group, preventing comparison. No statistically significant differences in seizure frequency were observed. Common treatment\u2010emergent adverse events included diarrhea, vomiting, abdominal pain, and nausea, mostly mild or moderate in severity. No serious adverse events were considered to be treatment related. One patient discontinued due to status epilepticus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>Triheptanoin did not significantly reduce seizure frequency in patients with Glut1DS not on the ketogenic diet. Treatment was associated with mild to moderate gastrointestinal treatment\u2010related events; most resolved following dose reduction or interruption and\/or medication for treatment. Triheptanoin was not associated with any long\u2010term safety concerns when administered at dose levels up to 35% of total daily caloric intake for up to 1 year.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.17263","type":"journal-article","created":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T12:03:58Z","timestamp":1650456238000},"page":"1748-1760","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["A randomized, double\u2010blind trial of triheptanoin for drug\u2010resistant epilepsy in glucose transporter 1 deficiency syndrome"],"prefix":"10.1111","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"first","affiliation":[{"name":"G. Gaslini Institute, Scientific Institute for Research and Health Care  Genoa Italy"},{"name":"Departments of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health University of Genoa  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3874-9749","authenticated-orcid":false,"given":"St\u00e9phane","family":"Auvin","sequence":"additional","affiliation":[{"name":"Robert Debr\u00e9 University Hospital and University of Paris  Paris France"},{"name":"University Institute of France  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Collins","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital Colorado  Aurora Colorado USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences University of Cambridge  Cambridge 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Kay Koenig","sequence":"additional","affiliation":[{"name":"University of Texas Health Science Center at Houston  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Lacy","sequence":"additional","affiliation":[{"name":"Cook Children\u2019s Medical Center  Fort Worth Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald","family":"Davis","sequence":"additional","affiliation":[{"name":"Neurology and Epilepsy Research Center Pediatric Neurology  Orlando Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Garcia\u2010Cazorla","sequence":"additional","affiliation":[{"name":"Sant Joan de D\u00e9u Hospital  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Russell P.","family":"Saneto","sequence":"additional","affiliation":[{"name":"Department of Neurology 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