Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

• Conditions: Cerebrotendinous Xanthomatosis (CTX)

• Registration Number: NCT02638220
• Lead Sponsor: Travere Therapeutics, Inc.

Brief Summary

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.

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 Timeline

• Study Start: 2015-09
• Study First Submitted: 2015-11-23
• Study First Submitted QC: 2015-12-18
• Study First Posted: 2015-12-23
• Status Verified: 2018-11
• Last Update Submitted: 2018-11-07
• Last Update Posted: 2018-11-09
• Primary Completion: 2018-12
• Study Completion: 2018-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 500

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of Participants Who Had Positive Genetic Test Results	At genetic testing	genetic test results

Trial Locations

Locations (1)

Travere Investigational Site; 🇺🇸 Milwaukee, Wisconsin, United States