Clinical Trial: Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

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 Summary:
Sponsor: Retrophin, Inc.

Current Primary Outcome: To calculate the prevalence of Cerebrotendinous Xanthomatosis (CTX) in a patient population diagnosed up to age 21 with early-onset idiopathic bilateral cataracts [ Time Frame: 8 weeks ]

(by blood draw where plasma cholenstanol levels and/or urine bile alcohol results will be used to determine whether genetic testing is indicated. Genetic Testing, if indicated, will be used to determine the prevalence of CTX)


Original Primary Outcome: Same as current

Current Secondary Outcome: 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.


Original Secondary Outcome: Same as current

Information By: Retrophin, Inc.

Dates:
Date Received: November 23, 2015
Date Started: September 2015
Date Completion: December 2017
Last Updated: January 31, 2017
Last Verified: January 2017