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Patients with CTX often experience a diagnostic delay. Although early diagnosis and treatment initiation can improve symptoms and prognosis, a standardised approach to diagnosis, treatment and management of patients is not yet established.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Aim<\/jats:title>\n                    <jats:p>To assess expert opinion on best care practices for patients with CTX using a modified Delphi method.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A multidisciplinary group of healthcare professionals with expertise in CTX responded to a 3-round online questionnaire (n\u2009=\u200910 in Rounds 1 and 2; n\u2009=\u20099 in Round 3), containing questions relating to the diagnosis, treatment, monitoring, multidisciplinary care and prognosis of patients with CTX. Determination of consensus achievement was based on a pre-defined statistical threshold of \u2265\u200970% Delphi panellists selecting 1\u20132 (disagreement) or 5\u20136 (agreement) for 6-point Likert scale questions, or \u2265\u200970% Delphi panellists choosing the same option for ranking and proportion questions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Of the Round 1 (n\u2009=\u200922), Round 2 (n\u2009=\u200932) and Round 3 (n\u2009=\u200926) questions for which consensus was assessed, 59.1%, 21.9% and 3.8% reached consensus, respectively. Consensus agreement that genetic analyses and\/or determination of serum cholestanol levels should be used to diagnose CTX, and dried bloodspot testing should facilitate detection in newborns, was reached. Age at diagnosis and early treatment initiation (at birth, where possible) were considered to have the biggest impact on treatment outcomes. All panellists agreed that chenodeoxycholic acid (CDCA) is a lifetime replacement therapy which, if initiated early, can considerably improve prognosis as it may be capable of reversing the pathophysiological process in CTX. No consensus was reached on the value of cholic acid therapy alone. Monitoring patients through testing plasma cholestanol levels and neurologic examination was recommended, although further research regarding monitoring treatment and progression of the disease is required. Neurologists and paediatricians\/metabolic specialists were highlighted as key clinicians that should be included in the multidisciplinary team involved in patients\u2019 care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The results of this study provide a basis for standardisation of care and highlight key areas where further research is needed to inform best practices for the diagnosis, treatment and management of patients with CTX.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-021-01980-5","type":"journal-article","created":{"date-parts":[[2021,8,6]],"date-time":"2021-08-06T09:06:57Z","timestamp":1628240817000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":61,"title":["Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0237-1406","authenticated-orcid":false,"given":"Bianca M. 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Clinical Commissioning Policy: Cholic acid and chenodeoxycholic acid for treating inborn errors of bile acid synthesis (all ages). 2019. https:\/\/www.england.nhs.uk\/commissioning\/wp-content\/uploads\/sites\/12\/2019\/07\/Clinical-Commissioning-Policy_Cholic-acid-and-chenodeoxycholic-acid-for-treating-inborn-errors-of-bile-acid-sy.pdf. Accessed 30 June 2021."},{"key":"1980_CR53","unstructured":"Food and Drug Administration. CHOLBAM Highlights of Prescribing Information. 2015. https:\/\/www.accessdata.fda.gov\/drugsatfda_docs\/label\/2015\/205750s000lbl.pdf. Accessed 30 June 2021."}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-021-01980-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-021-01980-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-021-01980-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T19:54:59Z","timestamp":1699300499000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-021-01980-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,6]]},"references-count":53,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["1980"],"URL":"https:\/\/doi.org\/10.1186\/s13023-021-01980-5","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,6]]},"assertion":[{"value":"1 March 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 July 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 August 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"AF: Received a grant from Leadiant Biosciences. Member of HCT of European Reference Network on Rare Neurologic Diseases. AM: Member of HCT of European Reference Network on Rare Neurologic Diseases. AV: Receives honoraria from serving as a consultant for Leadiant Biosciences, Inc. (USA) and Leadiant Biosciences Ltd (UK). BE: Received honorarium from THParm as advisory board member. BSi: Employee of Costello Medical. BSt: None to declare. FM: Previously received an education grant from Leadiant Biosciences. GY: Received consultation fees from Abbvie Inc. KH: Employee of Costello Medical. MTD: Received a grant from Leadiant Biosciences. Member of HCT of European Reference Network on Rare Neurologic Diseases. RDS: Served as a paid consultant to Retrophin. He held or holds patents related to newborn screening for sterol and bile acid disorders which are not licensed and for which there are no resulting royalties. He is an employee of PreventionGenetics which offers fee based genetic testing for CTX. SV: Employee of Leadiant Biosciences. TZ: None to declare. TCF-Z: None to declare.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"353"}}