CompletedPhase 3

Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

United States19 participantsStarted 2020-01-31

Plain-language 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)

Who can participate

Age range1 Month

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Male or female at least 1 month or older at screening.
✓. Clinical diagnosis of CTX with biochemical confirmation.
✓. 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.
✓. 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

✕. Genetic testing does not confirm CTX.
✕. Malabsorption disorder or confounding inflammatory gastrointestinal condition (for example, irritable bowel syndrome).
✕. Documented history of heart failure.
✕. Treated with medications which impact bile acid absorption such as bile acid sequestering agents (eg, cholestyramine, colestipol, aluminum-based antacids.
✕. Treated with cholic acid medication.
✕. Female patient who is pregnant, plans to become pregnant during the course of the study, or is breastfeeding.
✕. Positive at screening for the human immunodeficiency virus (HIV) or markers indicating acute or chronic hepatitis B infection or hepatitis C infection.

What they're measuring

Change From Baseline in Urine 23S-Pentol During the Two Double-Blind Periods

Timeframe: Two double-blind periods: Week 0 to Week 4, Week 12 to Week 16

Trial details

NCT IDNCT04270682

SponsorMirum Pharmaceuticals, Inc.

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2023-07-13

Results submitted2024-07-12

View on ClinicalTrials.gov More CTX trials