Skip to main content
OpenTrials
Completed

NCT Number: NCT04270682

Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

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)

Completed

Looking for future studies?

Notify Me

Key information

Conditions

CTX Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Xanthomatosis Xanthomatosis, Cerebrotendinous

Age range

1 month and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 3

Primary location

Travere Investigational Site, Fortaleza, Ceará, Brazil

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Blinded CDCA 250 mg TID

Drug

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

Placebo

Drug

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 TID

Drug

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.

Rescue Medication CDCA 250 mg TID

Drug

CDCA 250 mg TID will be provided as rescue medication during the double-blind periods, if needed, based on laboratory results.

CDCA Weight-Based Dose TID

Drug

Patients in the pediatric cohort will complete a weight-based dose titration to a tolerated dose and will maintain that tolerated dose for the remainder of the study. Pediatric cohort dosing of CDCA will not exceed an equivalent dose of 750 mg/day.

Primary outcomes

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

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

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

Secondary outcomes

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

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

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

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

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

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

  3. Proportion of Participants Who Received Rescue Treatment During 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 - Prescott's Method

Sponsors and collaborators

Lead sponsor

Mirum Pharmaceuticals, Inc.

Industry

Registry information

Official study title

A Phase 3 Study to Evaluate the Effects of Chenodeoxycholic Acid in Adult and Pediatric Patients With Cerebrotendinous Xanthomatosis

Important dates

Study start
2020
Primary completion
2023
Study completion
2023
First posted
Feb 17, 2020
Registry last updated
Oct 28, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.