Cerebrotendinous Xanthomatoses
Conditions
Brief summary
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.
Interventions
250mg capsules
DRUGChenodeoxycholic acid Placebo
Placebo to match
Sponsors
Leadiant Biosciences, Inc.
Study design
Allocation
RANDOMIZED
Intervention model
PARALLEL
Primary purpose
TREATMENT
Masking
QUADRUPLE (Subject, Caregiver, Investigator, Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
2 Years to 75 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 AEs | Up to 20 weeks | — |
| Incidence of, severity/intensity of, and relationship to study drug of SAEs | Up to 20 weeks | — |
| Incidence of, severity/intensity of AESIs | Up to 20 weeks | Diarrhea and hepatic dysfunction |
| 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 physical examination | Up to 20 weeks | — |
| Incidence of, severity/intensity of, and changes in vital signs | Up to 20 weeks | — |
| Number of participants with discontinuations due to AEs | Up to 20 weeks | — |
| Incidence of, severity/intensity of, and changes in laboratory values | Up to 20 weeks | — |
Countries
Israel
Outcome results
None listed