Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

Mirum Pharmaceuticals, Inc.19 enrolled

Overview

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)

Study Type

INTERVENTIONAL

Allocation

RANDOMIZED

Purpose

TREATMENT

Masking

QUADRUPLE

Enrollment

Conditions

CTX

Interventions

Blinded CDCA 250 mg TIDDRUG

Adult cohort patients will receive blinded 250 mg CDCA TID or placebo during the double-blind periods based upon their treatment assignment.

PlaceboDRUG

Adult cohort patients will receive blinded 250 mg CDCA TID or placebo during the double-blind periods based upon their treatment assignment.

Open-Label CDCA 250 mg TIDDRUG

Adult cohort patients will receive open-label 250 mg CDCA TID during the run-in and washout periods of the study or as rescue medication during the double-blind periods, if needed, based on clinical symptoms.

Eligibility

Sex: ALLMin age: 1 Month

Medical Language ↔ Plain English

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.

Locations (12)

Travere Investigational Site

Aurora, Colorado, United States

Travere Investigational Site

Orlando, Florida, United States

Travere Investigational Site

Iowa City, Iowa, United States

Outcomes

Primary Outcomes

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

Primary Analysis of Change from Baseline in Urine 23S-Pentol (Natural Log-Transformed) during the Two Double-blind Periods- Paired T-test

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

Secondary Outcomes

Change From Baseline Plasma Cholestanol During the Two Double-Blind Periods

Primary Analysis of Change from Baseline Plasma Cholestanol (Natural Log-transformed) at the End of the Two Double-Blind Periods- Paired T-test

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

Change From Baseline Plasma 7αC4 During the Two Double-Blind Periods

Primary Analysis of Change from Baseline Plasma 7αC4 (Natural Log-Transformed) During the Two Double-Blind Periods

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

Proportion of Participants Who Received Rescue Treatment During Two Double-Blind Periods

Proportion of Participants Who Received Rescue Treatment during Two Double-Blind Periods - Prescott's Method

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

Data from ClinicalTrials.gov

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