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

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
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 Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

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

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
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

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
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

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Travere Therapeutics, Inc.

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • 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

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
September 1, 2015

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
February 19, 2021

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
February 19, 2021

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
November 23, 2015

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
December 18, 2015

First Posted (Estimated)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
December 23, 2015

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
September 19, 2024

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 30, 2024

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
June 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant 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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