A Study of Chenodeoxycholic Acid (CDCA) in Newly Diagnosed Participants With Cerebrotendinous Xanthomatosis (CTX)

Recruitment & Eligibility

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

Study & Design

Arm && Interventions

Group	Intervention	Description
Group 1 Diarrhea-Evaluable	Chenodeoxycholic acid Placebo	Diarrhea-evaluable participants aged 12-75 years old who did not use continence aids that precluded assessment or evaluation of stool frequency and consistency during the screening/baseline period; randomized 1:1 to receive either placebo or CDCA.
Group 1 Diarrhea-Evaluable	Chenodeoxycholic acid	Diarrhea-evaluable participants aged 12-75 years old who did not use continence aids that precluded assessment or evaluation of stool frequency and consistency during the screening/baseline period; randomized 1:1 to receive either placebo or CDCA.
Group 2b Pediatrics	Chenodeoxycholic acid	Participants aged 2 to less than 12 years old with or without clinically burdensome diarrhea.
Group 2a Non-Diarrhea Evaluable	Chenodeoxycholic acid	Non-diarrhea-evaluable participants aged 12-75 years old who do not have stable, clinically burdensome diarrhea or their diarrhea cannot be fully characterized.

Primary Outcome Measures

Name	Time	Method
Change from baseline at Week 4 in average number of stools with a BSS score of 6 or 7 per day	Up to 4 weeks

Secondary Outcome Measures

Name	Time	Method
Number of participants with discontinuations due to AEs	Up to 20 weeks
Change in urine and/or plasma bile alcohol levels from baseline to Week 12	Up to 12 weeks	All groups combined
Incidence of, severity/intensity of, and relationship to study drug of SAEs	Up to 20 weeks
Incidence of, severity/intensity of, and changes in physical examination	Up to 20 weeks
Change in plasma cholestanol levels from baseline to Week 12	Up to 12 weeks	All groups combined
Incidence of, severity/intensity of, and changes in laboratory values	Up to 20 weeks
Incidence of, severity/intensity of, and relationship to study drug of AEs	Up to 20 weeks
Incidence of, severity/intensity of, and changes in vital signs	Up to 20 weeks
Incidence of, severity/intensity of AESIs	Up to 20 weeks	Diarrhea and hepatic dysfunction

Recruitment & Eligibility