Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

April 30, 2024 updated by: Travere Therapeutics, Inc.

An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts

Iiopathic bilateral cataracts occur in many children with Cerebrotendinous Xanthomatosis (CTX) so the opportunity to use contact with health care providers in connection with pediatric cataract evaluation and treatment is a promising avenue for disease detection and prevention.

Study Overview

Status

Completed

Conditions

Detailed Description

This is an observational, multicenter study to determine the prevalence of Cerebrotendinous Xanthomatosis (CTX) in patient populations diagnosed with early-onset idiopathic bilateral cataracts. Patients who are potentially eligible for study participation will be identified through a chart review of patients who were seen at each study site prior to that site's initiation, or by entering care at the site while the site is participating in the trial.

Study Type

Observational

Enrollment (Actual)

442

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35294
        • Travere Investigational Site
    • California
      • La Jolla, California, United States, 92093
        • Travere Investigational Site
      • Los Angeles, California, United States, 90027
        • Travere Investigational Site
      • Los Angeles, California, United States, 90095
        • Travere Investigational Site
      • Palo Alto, California, United States, 94303
        • Travere Investigational Site
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Travere Investigational Site
    • Florida
      • Gainesville, Florida, United States, 32608
        • Travere Investigational Site
      • Jacksonville, Florida, United States, 32207
        • Travere Investigational Site
    • Georgia
      • Atlanta, Georgia, United States, 30322
        • Travere Investigational Site
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Travere Investigational Site
    • Indiana
      • Indianapolis, Indiana, United States, 46202
        • Travere Investigational Site
    • Iowa
      • Iowa City, Iowa, United States, 52242
        • Travere Investigational Site
    • Kentucky
      • Louisville, Kentucky, United States, 40202
        • Travere Investigational Site
    • Louisiana
      • New Orleans, Louisiana, United States, 70121
        • Travere Investigational Site
    • Maryland
      • Baltimore, Maryland, United States, 21201
        • Travere Investigational Site
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Travere Investigational Site
    • Michigan
      • Ann Arbor, Michigan, United States, 48105
        • Travere Investigational Site
      • Detroit, Michigan, United States, 48201
        • Travere Investigational Site
    • Missouri
      • Kansas City, Missouri, United States, 64108
        • Travere Investigational Site
      • Saint Louis, Missouri, United States, 63103
        • Travere Investigational Site
    • New York
      • Bronx, New York, United States, 10467
        • Travere Investigational Site
    • North Carolina
      • Chapel Hill, North Carolina, United States, 27517
        • Travere Investigational Site
      • Durham, North Carolina, United States, 27708
        • Travere Investigational Site
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Travere Investigational Site
      • Cleveland, Ohio, United States, 44106
        • Travere Investigational Site
      • Columbus, Ohio, United States, 43205
        • Travere Investigational Site
    • Oklahoma
      • Oklahoma City, Oklahoma, United States, 73104
        • Travere Investigational Site
    • Oregon
      • Portland, Oregon, United States, 97239-3098
        • Travere Investigational Site
      • Tigard, Oregon, United States, 97223
        • Travere Investigational Site
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Travere Investigational Site
      • Philadelphia, Pennsylvania, United States, 19107
        • Travere Investigational Site
    • South Carolina
      • Charleston, South Carolina, United States, 29425
        • Travere Investigational Site
    • Tennessee
      • Germantown, Tennessee, United States, 38103
        • Travere Investigational Site
      • Nashville, Tennessee, United States, 37232
        • Travere Investigational Site
    • Texas
      • Houston, Texas, United States, 77030
        • Travere Investigational Site
      • Houston, Texas, United States, 77025
        • Travere Investigational Site
    • Utah
      • Salt Lake City, Utah, United States, 84113
        • Travere Investigational Site
    • Virginia
      • Norfolk, Virginia, United States, 23502
        • Travere Investigational Site
      • Richmond, Virginia, United States, 23298
        • Travere Investigational Site
    • Washington
      • Seattle, Washington, United States, 98105
        • Travere Investigational Site
      • Spokane, Washington, United States, 99204
        • Travere Investigational Site
      • Tacoma, Washington, United States, 98405
        • Travere Investigational Site
    • West Virginia
      • Morgantown, West Virginia, United States, 26506
        • Travere Investigational Site
    • Wisconsin
      • Milwaukee, Wisconsin, United States, 53226
        • Travere Investigational Site

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 21 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Early-Onset Idiopathic Bilateral Cataracts

Description

Inclusion Criteria:

  1. The patient has a diagnosis of idiopathic bilateral cataracts
  2. Between the ages of 2 to 21 years at the time of diagnosis

Exclusion Criteria:

  1. The patient has a diagnosis of cataracts with known etiology other than CTX
  2. The patient has a diagnosis of CTX
  3. The patient has cataracts caused by cataractogenic treatments
  4. The patient has taken or is currently taking cholic acid or chenodeoxycholic acid
  5. The patient has participated in an interventional clinical trial in the past 30 days
  6. The patient and/or their parent/legal guardian, in the opinion of the Investigator, is unable to adhere to the requirements of the study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Number of Participants Who Had Positive Genetic Test Results
Time Frame: At genetic testing
genetic test results
At genetic testing

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
To assess other manifestations of CTX within patients presenting with idiopathic bilateral cataracts.
Time Frame: 8 weeks
Based on a patient reported, CTX disease-specific medical history for the patients diagnosed with CTX, the manifestations and symptoms related to the disease will be presented by body system.
8 weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Travere Therapeutics, Inc.

Investigators

  • Study Director: Executive Director, Clinical Development Nephrology, Travere Therapeutics, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

September 1, 2015

Primary Completion (Actual)

February 19, 2021

Study Completion (Actual)

February 19, 2021

Study Registration Dates

First Submitted

November 23, 2015

First Submitted That Met QC Criteria

December 18, 2015

First Posted (Estimated)

December 23, 2015

Study Record Updates

Last Update Posted (Actual)

September 19, 2024

Last Update Submitted That Met QC Criteria

April 30, 2024

Last Verified

June 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 018CTXX15001

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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