{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T02:08:51Z","timestamp":1768442931417,"version":"3.49.0"},"reference-count":39,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T00:00:00Z","timestamp":1554940800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006383","name":"Children's Hospital Colorado Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006383","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1 TR002535"],"award-info":[{"award-number":["UL1 TR002535"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000038","name":"U.S. Food and Drug Administration","doi-asserted-by":"publisher","award":["1R01 FD003907\u201001A3"],"award-info":[{"award-number":["1R01 FD003907\u201001A3"]}],"id":[{"id":"10.13039\/100000038","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007155","name":"Walter S. and Lucienne Driskill Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007155","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":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Study Objective<\/jats:title><jats:p>A phase 1\/2 clinical trial was performed in individuals with cystathionine <jats:styled-content>\n<jats:italic>\u03b2<\/jats:italic><\/jats:styled-content> synthase (CBS) deficient homocystinuria with aims to: (a) assess pharmacokinetics and safety of taurine therapy, (b) evaluate oxidative stress, inflammation, and vascular function in CBS deficiency, and (c) evaluate the impact of short\u2010term taurine treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Individuals with pyridoxine\u2010nonresponsive CBS deficiency with homocysteine &gt;50\u2009\u03bcM, without inflammatory disorder or on antioxidant therapy were enrolled. Biomarkers of oxidative stress and inflammation, endothelial function (brachial artery flow\u2010mediated dilation [FMD]), and disease\u2010related metabolites obtained at baseline were compared to normal values. While maintaining current treatment, patients were treated with 75\u2009mg\/kg taurine twice daily, and treatment response assessed after 4 hours and 4 days.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fourteen patients (8\u201035\u2009years; 8 males, 6 females) were enrolled with baseline homocysteine levels 161\u2009\u00b1\u200967\u2009\u03bcM. The study found high\u2010dose taurine to be safe when excluding preexisting hypertriglyceridemia. Taurine pharmacokinetics showed a rapid peak level returning to near normal levels at 12\u2009hours, but had slow accumulation and elevated predosing levels after 4 days of treatment. Only a single parameter of oxidative stress, 2,3\u2010dinor\u20108\u2010isoprostaglandin\u2010F2\u03b1, was elevated at baseline, with no elevated inflammatory parameters, and no change in FMD values overall. Taurine had no effect on any of these parameters. However, the effect of taurine was strongly related to pretreatment FMD values; and taurine significantly improved FMD in the subset of individuals with pretreatment FMD values &lt;10% and in individuals with homocysteine levels &gt;125\u2009\u03bcM, pertinent to endothelial function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Taurine improves endothelial function in CBS\u2010deficient homocystinuria in patients with preexisting reduced function.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12085","type":"journal-article","created":{"date-parts":[[2019,3,15]],"date-time":"2019-03-15T04:46:10Z","timestamp":1552625170000},"page":"424-437","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine \u03b2\u2010synthase deficient homocystinuria and the impact of taurine treatment in a phase 1\/2 human clinical trial"],"prefix":"10.1002","volume":"42","author":[{"given":"Johan L. 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