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Eligible patients were aged 2\u201375 years, had been diagnosed with CTX, and were treated with CDCA orally for \u22651 year. The impact of CDCA treatment on biochemical markers (including serum cholestanol levels) and disease signs and symptoms were assessed, in addition to the safety and tolerability of CDCA treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 35 patients were screened in the NL study and were diagnosed with CTX at 25.6 (\u00b1 13.7 SD) years on average. These patients were treated with CDCA and followed up for a median of 9.00 (range: 0.4\u201326.3) years. In addition, 28 patients were enrolled in the IT study and were diagnosed at 35.0 (\u00b1 11.4 SD) years on average (median duration of CDCA treatment: 5.75 [range: 0.0\u201325.0] years). Signs and symptoms of disease resolved, improved, or remained stable in many patients, with concomitant improvements in biochemical marker levels (serum cholestanol,<jats:italic>p<\/jats:italic>&lt; 0.001; 7\u03b1-hydroxy-4-cholesten-3-one,<jats:italic>p<\/jats:italic>&lt; 0.001 [IT study]).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The outcomes of these retrospective cohort studies indicate that CDCA is effective in the long-term treatment of CTX, with an acceptable safety profile.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10072-019-04169-8","type":"journal-article","created":{"date-parts":[[2019,12,20]],"date-time":"2019-12-20T10:03:46Z","timestamp":1576836226000},"page":"943-949","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies"],"prefix":"10.1007","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2163-1891","authenticated-orcid":false,"given":"Aad","family":"Verrips","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5731-5642","authenticated-orcid":false,"given":"Maria Teresa","family":"Dotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3516-7364","authenticated-orcid":false,"given":"Andrea","family":"Mignarri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0237-1406","authenticated-orcid":false,"given":"Bianca M. 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Data will be available immediately following publication, with no end date. Please contact Sue Verma (sue.verma@leadiantbiosciences.com) to request these data.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data sharing statement"}},{"value":"Substantial contributions to study conception and design: AV, MTD, AM, BMLS, SV, AF; substantial contributions to analysis and interpretation of the data: AV, MTD, AM, BMLS, SV, AF; drafting the article or revising it critically for important intellectual content: AV, MTD, AM, BMLS, SV, AF; final approval of the version of the article to be published: AV, MTD, AM, BMLS, SV, AF.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Authors\u2019 contributions"}},{"value":"AV and AM receive honoraria from serving as a consultant for Leadiant Biosciences, Inc. (USA) and Leadiant Biosciences Ltd (UK). MTD and AF received honoraria for attendance at a meeting from Leadiant Biosciences Ltd (UK). BMLS declares to have no conflict of interest. SV is an employee of Leadiant Biosciences Ltd (UK).","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"The study protocol, patient information leaflet and informed consent document were approved by the Independent Ethics Committee for both studies. The trials were designed and monitored in accordance with the ethical principles of the International Conference on Harmonisation, the Consolidated Guidelines on Good Clinical Practice, in accordance with the Declaration of Helsinki and following all other requirements of local laws. Written informed consent was obtained from all patients prior to inclusion in the studies.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics"}}]}}