Clinical trial NCT04270682: Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)
Official title: A Phase 3 Study to Evaluate the Effects of Chenodeoxycholic Acid in Adult and Pediatric Patients With Cerebrotendinous Xanthomatosis
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE3
Conditions: CTX
Keywords: Cerebrotendinous xanthomatosis
CTX
Cholestanol
Leukodystrophy
CYP27A1
Lead sponsor: Mirum Pharmaceuticals, Inc.
Sponsor class: INDUSTRY
First posted: 2020-02-17
Enrollment: 19
Sex: ALL
Minimum age (years): 1
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: CROSSOVER
Intervention model description: Two-cohort study. One cohort is for adult patients with a double-blind placebo withdrawal (with CDCA rescue) crossover. Second cohort will dose titrate pediatric patients into a stable, open-label treatment.
Primary purpose: TREATMENT

Brief 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)


Eligibility 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.

Primary outcomes:
measure: 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
Secondary outcomes:
measure: Change From Baseline Plasma Cholestanol During the Two Double-Blind Periods
timeFrame: Two double-blind periods: Week 0 to Week 4, Week 12 to Week 16
measure: Change From Baseline Plasma 7αC4 During the Two Double-Blind Periods
timeFrame: Two double-blind periods: Week 0 to Week 4, Week 12 to Week 16
measure: Proportion of Participants Who Received Rescue Treatment During Two Double-Blind Periods
timeFrame: Two double-blind periods: Week 0 to Week 4, Week 12 to Week 16
Other outcomes:
Locations:
city: Aurora
country: United States
facility: Travere Investigational Site
state: Colorado
city: Orlando
country: United States
facility: Travere Investigational Site
state: Florida
city: Iowa City
country: United States
facility: Travere Investigational Site
state: Iowa
city: New Orleans
country: United States
facility: Travere Investigational Site
state: Louisiana
city: New Orleans
country: United States
facility: Travere Investigational Site
state: Louisiana
city: Great Neck
country: United States
facility: Travere Investigational Site
state: New York
city: Columbus
country: United States
facility: Travere Investigational Site
state: Ohio
city: Austin
country: United States
facility: Travere Investigational Site
state: Texas
city: Seattle
country: United States
facility: Travere Investigational Site
state: Washington
city: Fortaleza
country: Brazil
facility: Travere Investigational Site
state: CE
city: Porto Alegre
country: Brazil
facility: Travere Investigational Site
state: RS
city: São Paulo
country: Brazil
facility: Travere Investigational Site
state: SP
Study officials:
References: