{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T20:26:18Z","timestamp":1792009578153,"version":"4.4.0"},"reference-count":21,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T00:00:00Z","timestamp":1687132800000},"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":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Long\u2010chain fatty acid oxidation disorders (LC\u2010FAODs) result in life\u2010threatening energy metabolism deficiencies\/energy source depletion. Triheptanoin is an odd\u2010carbon, medium chain triglyceride (that is an anaplerotic substrate of calories and fatty acids) for treating pediatric and adult patients with LC\u2010FAODs. Study CL202 (NCT02214160), an open\u2010label extension study of study CL201 (NCT01886378), evaluated the long\u2010term safety\/efficacy of triheptanoin in patients with LC\u2010FAODs (\n                    <jats:italic>N<\/jats:italic>\n                    \u2009=\u200994), including cohorts who were triheptanoin na\u00efve (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200933) or had received triheptanoin in study CL201 (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200924) or in investigator\u2010sponsored trials\/expanded access programs (IST\/EAPs;\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200937). Primary endpoint was the annualized rate of LC\u2010FAOD major clinical events (MCEs; rhabdomyolysis, hypoglycemia, cardiomyopathy). Mean\u2009\u00b1\u2009standard deviation (SD) triheptanoin treatment durations were 27.4\u2009\u00b1\u200919.9, 46.9\u2009\u00b1\u200913.6, and 49.6\u2009\u00b1\u200921.4\u2009months for the triheptanoin\u2010na\u00efve, CL201 rollover, and IST\/EAP cohorts, respectively. In the triheptanoin\u2010na\u00efve cohort, median (interquartile range [IQR]) MCE rate significantly decreased from 2.00 (0.67\u20133.33) events\/patient\/year pre\u2010triheptanoin to 0.28 (0.00\u20131.43) events\/patient\/year with triheptanoin (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0343), a reduction of 86%. In the CL201 rollover cohort, mean\u2009\u00b1\u2009SD MCE rate significantly decreased from 1.76\u2009\u00b1\u20091.64 events\/patient\/year pre\u2010triheptanoin to 1.00\u2009\u00b1\u20091.00 events\/patient\/year with triheptanoin (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.0347), a reduction of 43%. In the IST\/EAP cohort, mean\u2009\u00b1\u2009SD MCE rate was 1.40\u2009\u00b1\u20092.37 (median [IQR] 0.57 [0.00\u20131.67]) events\/patient\/year with triheptanoin. Safety data were consistent with previous observations. Treatment\u2010related treatment\u2010emergent adverse events (TEAEs) occurred in 68.1% of patients and were mostly mild\/moderate in severity. Five patients had seven serious treatment\u2010related TEAEs; all resolved. Our results confirm the long\u2010term efficacy of triheptanoin for patients with LC\u2010FAOD.\n                  <\/jats:p>","DOI":"10.1002\/jimd.12640","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T02:51:10Z","timestamp":1686106270000},"page":"943-955","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Triheptanoin for the treatment of long\u2010chain fatty acid oxidation disorders: Final results of an open\u2010label, long\u2010term extension study"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8180-6457","authenticated-orcid":false,"given":"Jerry","family":"Vockley","sequence":"first","affiliation":[{"name":"Division of Genetic and Genomic Medicine UPMC Children's Hospital of Pittsburgh, University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara K.","family":"Burton","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ann &amp; Robert H. Lurie Children's Hospital  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Berry","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Longo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah  Salt Lake City Utah USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Phillips","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amarilis","family":"Sanchez\u2010Valle","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of South Florida, Morsani College of Medicine  Tampa Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly A.","family":"Chapman","sequence":"additional","affiliation":[{"name":"Section Genetics and Metabolism Children's National Health System  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pranoot","family":"Tanpaiboon","sequence":"additional","affiliation":[{"name":"Section Genetics and Metabolism Children's National Health System  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Grunewald","sequence":"additional","affiliation":[{"name":"Metabolic Unit Great Ormond Street Hospital and UCL Institute of Child Health NIHR BRC  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoxiao","family":"Lu","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc  Novato California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Syeda","family":"Rahman","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc  Novato California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"Ray","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc  Novato California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bridget","family":"Reineking","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc  Novato California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pisani","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc  Novato California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio Nino","family":"Ramirez","sequence":"additional","affiliation":[{"name":"Ultragenyx Pharmaceutical Inc  Novato California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,19]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11154\u2010020\u201009568\u20103"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010009\u20101125\u20109"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010012\u20109542\u20106"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.06.006"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201001070\u20100"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010017\u20100085\u20108"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.02.005"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12038"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12313"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.08.008"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.10.001"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.37765\/ajmc.2020.88480"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-14621-8_24"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.10.005"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010006\u20100320\u20101"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clnesp.2020.11.018"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/1477\u20107525\u20105\u201054"},{"issue":"1","key":"e_1_2_11_19_1","first-page":"145","article-title":"Development, validation, and norming of the SF\u201010 for children health survey","volume":"15","author":"Baglama RN","year":"2006","journal-title":"Qual Life Res"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2021.02.003"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001635\u2010x"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010010\u20109090\u2010x"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12640","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T21:27:08Z","timestamp":1699478828000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12640"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,19]]},"references-count":21,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["10.1002\/jimd.12640"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12640","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,19]]},"assertion":[{"value":"2023-01-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}