A Study of Chenodeoxycholic Acid (CDCA) in Newly Diagnosed Participants With Cerebrotendinous Xanthomatosis (CTX)
This study is designed to demonstrate the beneficial effect of CDCA in the treatment of CTX-associated diarrhea in approximately 10 participants aged 2-75 years old with newly diagnosed CTX or suspected CTX who have never received treatment with CDCA.
- EligibilityCriteria: Inclusion Criteria:  Signed informed consent form (or assent form as appliable) Aged from 2 to 75 years old Has a new or suspected diagnosis of CTX as defined by an elevated plasma cholestanol concentration (>10 mg/L/>25.7 μmol/L) in conjunction with a clinical presentation consistent with the diseased as assessed by the investigator Has never received treatment with CDCA Has never received treatment with other bile acid products  Exclusion Criteria:  Any medical condition that, in the opinion of the investigator, precludes the participant's participation in the study Presence of known hepatocyte dysfunction or bile ductal abnormalities such as intrahepatic cholestasis, primary biliary cirrhosis or sclerosing cholangitis Inability to adhere to treatment and visit schedule Female participants who are pregnant Female participants who are breast feeding Female participants who are using estrogen-containing compounds and cannot/will not discontinue them for the duration of the study Female participants of childbearing potential who are not using locally approved birth control method(s) or double barrier contraception (ie, condom and diaphragm, condom or diaphragm and spermicidal gel or foam) Taking any of the following medications: bile acid products; inhibitors of bile acid transporters; bile acid binding resins; aluminum-based antacids; coumarin and its derivatives; cholestyramine; ciclosporin; sirolimus; or phenobarbital - HealthyVolunteers: No - Gender: All - MinimumAge: 2 Years - MaximumAge: 75 Years - StdAgeList: Child, Adult, Older Adult