search
Back to results

Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

Primary Purpose

CTX

Status
Active
Phase
Phase 3
Locations
International
Study Type
Interventional
Intervention
Blinded CDCA 250 mg TID
Placebo
Open-Label CDCA 250 mg TID
Rescue Medication CDCA 250 mg TID
CDCA Weight-Based Dose TID
Sponsored by
Mirum Pharmaceuticals, Inc.
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional treatment trial for CTX focused on measuring Cerebrotendinous xanthomatosis, CTX, Cholestanol, Leukodystrophy, CYP27A1

Eligibility Criteria

1 Month - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

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.

Sites / Locations

  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site
  • Travere Investigational Site

Arms of the Study

Arm 1

Arm 2

Arm Type

Experimental

Experimental

Arm Label

Adult Cohort

Pediatric Cohort

Arm Description

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.

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.

Outcomes

Primary Outcome Measures

Change in Bile Alcohols.
Change from baseline in bile alcohols at the end of each DB treatment period.

Secondary Outcome Measures

Full Information

First Posted
February 12, 2020
Last Updated
September 29, 2023
Sponsor
Mirum Pharmaceuticals, Inc.
search

1. Study Identification

Unique Protocol Identification Number
NCT04270682
Brief Title
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

2. Study Status

Record Verification Date
September 2023
Overall Recruitment Status
Active, not recruiting
Study Start Date
January 31, 2020 (Actual)
Primary Completion Date
July 13, 2023 (Actual)
Study Completion Date
October 3, 2023 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title
Sponsor
Name of the Sponsor
Mirum Pharmaceuticals, Inc.

4. Oversight

Studies a U.S. FDA-regulated Drug Product
Yes
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
Yes

5. Study Description

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)

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
CTX
Keywords
Cerebrotendinous xanthomatosis, CTX, Cholestanol, Leukodystrophy, CYP27A1

7. Study Design

Primary Purpose
Treatment
Study Phase
Phase 3
Interventional Study Model
Crossover Assignment
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.
Masking
ParticipantCare ProviderInvestigatorOutcomes Assessor
Allocation
Randomized
Enrollment
18 (Actual)

8. Arms, Groups, and Interventions

Arm Title
Adult Cohort
Arm Type
Experimental
Arm Description
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.
Arm Title
Pediatric Cohort
Arm Type
Experimental
Arm Description
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.
Intervention Type
Drug
Intervention Name(s)
Blinded CDCA 250 mg TID
Intervention Description
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
Intervention Name(s)
Placebo
Intervention Description
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
Intervention Name(s)
Open-Label CDCA 250 mg TID
Intervention Description
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
Intervention Name(s)
Rescue Medication CDCA 250 mg TID
Intervention Description
CDCA 250 mg TID will be provided as rescue medication during the double-blind periods, if needed, based on laboratory results.
Intervention Type
Drug
Intervention Name(s)
CDCA Weight-Based Dose TID
Intervention Description
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 Outcome Measure Information:
Title
Change in Bile Alcohols.
Description
Change from baseline in bile alcohols at the end of each DB treatment period.
Time Frame
Week 4 and Week 16

10. Eligibility

Sex
All
Minimum Age & Unit of Time
1 Month
Accepts Healthy Volunteers
No
Eligibility Criteria
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.
Facility Information:
Facility Name
Travere Investigational Site
City
Aurora
State/Province
Colorado
ZIP/Postal Code
80045
Country
United States
Facility Name
Travere Investigational Site
City
Orlando
State/Province
Florida
ZIP/Postal Code
32806
Country
United States
Facility Name
Travere Investigational Site
City
Iowa City
State/Province
Iowa
ZIP/Postal Code
52242
Country
United States
Facility Name
Travere Investigational Site
City
New Orleans
State/Province
Louisiana
ZIP/Postal Code
70112
Country
United States
Facility Name
Travere Investigational Site
City
New Orleans
State/Province
Louisiana
ZIP/Postal Code
70121
Country
United States
Facility Name
Travere Investigational Site
City
Great Neck
State/Province
New York
ZIP/Postal Code
11021
Country
United States
Facility Name
Travere Investigational Site
City
Columbus
State/Province
Ohio
ZIP/Postal Code
43221
Country
United States
Facility Name
Travere Investigational Site
City
Austin
State/Province
Texas
ZIP/Postal Code
78723
Country
United States
Facility Name
Travere Investigational Site
City
Seattle
State/Province
Washington
ZIP/Postal Code
98195
Country
United States
Facility Name
Travere Investigational Site
City
Fortaleza
State/Province
CE
ZIP/Postal Code
60430-270
Country
Brazil
Facility Name
Travere Investigational Site
City
Porto Alegre
State/Province
RS
ZIP/Postal Code
90035-903
Country
Brazil
Facility Name
Travere Investigational Site
City
São Paulo
State/Province
SP
ZIP/Postal Code
04024-002
Country
Brazil

12. IPD Sharing Statement

Learn more about this trial

Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

We'll reach out to this number within 24 hrs