Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

Study Results

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Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE3

Total Enrollment

19 participants

Study Classification

INTERVENTIONAL

Study Start Date

2020-01-31

Study Completion Date

2023-10-04

Brief Summary

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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)

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Detailed Description

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Conditions

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CTX

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

CROSSOVER

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 Study Purpose

TREATMENT

Blinding Strategy

QUADRUPLE

Participants Caregivers Investigators Outcome Assessors

Study Groups

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Adult Cohort

Patients in the adult cohort will participate in a randomized, double-blind, placebo-controlled, 2 period × 2-treatment crossover study with rescue medication and open-label run-in to assess the efficacy and safety of CDCA.

Group Type EXPERIMENTAL

Blinded CDCA 250 mg TID

Intervention Type DRUG

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

Placebo

Intervention Type 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

Intervention Type 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

Intervention Type DRUG

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

Pediatric Cohort

Pediatric cohort patients (≥1 month and \<16 years) will participate in a 24-week, open-label cohort with an 8-week titration period and a 16-week treatment period at the tolerated dose.

Group Type EXPERIMENTAL

CDCA Weight-Based Dose TID

Intervention Type 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.

Interventions

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Blinded CDCA 250 mg TID

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

Intervention Type DRUG

Placebo

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

Intervention Type DRUG

Open-Label CDCA 250 mg TID

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.

Intervention Type DRUG

Rescue Medication CDCA 250 mg TID

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

Intervention Type DRUG

CDCA Weight-Based Dose TID

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.

Intervention Type DRUG

Eligibility Criteria

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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.

Minimum Eligible Age

1 Month

Eligible Sex

ALL

Accepts Healthy Volunteers

No