Overview

Study to Evaluate Patients With Cerebrotendinous Xanthomatosis

Status:
Recruiting
Trial end date:
2023-03-01
Target enrollment:
0
Participant gender:
All
Summary
The study is made up of two cohorts: a randomized double-blind crossover (placebo withdrawal with rescue) study among patients ≥ 16 years of age (adult cohort) and an open-label dose titration study among pediatric patients ≥1 month and <16 years of age (pediatric cohort)
Phase:
Phase 3
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
Retrophin, Inc.
Travere Therapeutics, Inc.
Treatments:
Chenodeoxycholic Acid
Criteria
Inclusion Criteria:

1. Male or female at least 1 month or older at screening.

2. Clinical diagnosis of CTX with biochemical confirmation.

3. Women of childbearing potential must agree to the use of one highly reliable method of
contraception during the study, plus one additional barrier method during sexual
activity.

4. Males must be surgically sterile, or males and their sexual partners must together
agree to use medically accepted methods of contraception that are considered highly
reliable during the course of the study.

Exclusion Criteria:

1. Genetic testing does not confirm CTX.

2. Malabsorption disorder or confounding inflammatory gastrointestinal condition (for
example, irritable bowel syndrome).

3. Documented history of heart failure.

4. Treated with medications which impact bile acid absorption such as bile acid
sequestering agents (eg, cholestyramine, colestipol, aluminum-based antacids.

5. Treated with cholic acid medication.

6. Female patient who is pregnant, plans to become pregnant during the course of the
study, or is breastfeeding.

7. Positive at screening for the human immunodeficiency virus (HIV) or markers indicating
acute or chronic hepatitis B infection or hepatitis C infection.