Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

Cerebrotendinous Xanthomatosis (CTX) Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT02638220
• Other study ID #: 018CTXX15001
• Status: Recruiting
• Start date: September 2015
• Est. completion date: December 2018

Study information

• Verified date: November 2018
• Source: Retrophin, Inc.
• Contact: Retrophin Medical Information
• Phone: 1-877-659-5518
• Email: medinfo[@]retrophin.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: December 2018
• Est. primary completion date: December 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years to 21 Years

Eligibility

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.

Related Conditions & MeSH terms

• Cataract
• Cerebrotendinous Xanthomatosis (CTX)
• Xanthomatosis, Cerebrotendinous

Locations

Country	Name	City	State
United States	University of Michigan Kellogg Eye Center	Ann Arbor	Michigan
United States	Emory Univerisity	Atlanta	Georgia
United States	Children's Hospital Colorado	Aurora	Colorado
United States	University of Maryland Baltimore	Baltimore	Maryland
United States	University of Alabama at Birmingham	Birmingham	Alabama
United States	Boston Children's Hospital	Boston	Massachusetts
United States	Montefiore	Bronx	New York
United States	University of North Carolina Kittner Eye Center	Chapel Hill	North Carolina
United States	Storm Eye Institute	Charleston	South Carolina
United States	Lurie Children's Hospital of Chicago	Chicago	Illinois
United States	Cincinnati Children's Hospital Medical Center	Cincinnati	Ohio
United States	Cole Eye Institute, Cleveland Clinic Foundation	Cleveland	Ohio
United States	Rainbow Babies and Children's Hospital	Cleveland	Ohio
United States	Nationwide Children's Hospital	Columbus	Ohio
United States	Children's Hospital of Michigan	Detroit	Michigan
United States	Duke University	Durham	North Carolina
United States	University of Florida - Shands Hosptial	Gainesville	Florida
United States	University of Tennessee Health Science Center, Hamilton Eye Institute	Germantown	Tennessee
United States	Baylor College of Medicine	Houston	Texas
United States	Houston Eye Associates	Houston	Texas
United States	Riley Hospital for Children	Indianapolis	Indiana
United States	University of Iowa	Iowa City	Iowa
United States	Nemours Children's Specialty Care	Jacksonville	Florida
United States	Children's Mercy Hospitals and Clinics	Kansas City	Missouri
United States	University of California, San Diego	La Jolla	California
United States	Children's Hospital of Los Angeles	Los Angeles	California
United States	Stein Eye Institute (UCLA)	Los Angeles	California
United States	KY Lions Eye Center	Louisville	Kentucky
United States	Children's Hospital of Wisocnsin	Milwaukee	Wisconsin
United States	West Virginia University	Morgantown	West Virginia
United States	Vanderbilt Medical Medical Center	Nashville	Tennessee
United States	Ochsner Clinic Foundation	New Orleans	Louisiana
United States	Children's Hospital of the King's Daughter	Norfolk	Virginia
United States	Dean McGee Eye Institute-Oklahoma Health Center	Oklahoma City	Oklahoma
United States	Stanford University	Palo Alto	California
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Wills Eye Hospital	Philadelphia	Pennsylvania
United States	Orgegon Health & Science University	Portland	Oregon
United States	Virginia Commonwealth University	Richmond	Virginia
United States	Saint Louis University Eye Institute	Saint Louis	Missouri
United States	University of Utah	Salt Lake City	Utah
United States	Seattle Children's Hospital	Seattle	Washington
United States	Spokane Eye Associates	Spokane	Washington
United States	Multicare Institute for Research and Innovation	Tacoma	Washington
United States	Child Eye Care Associates	Tigard	Oregon

Sponsors (1)

Lead Sponsor	Collaborator
Retrophin, Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	To calculate the prevalence of Cerebrotendinous Xanthomatosis (CTX) in a patient population diagnosed up to age 21 with early-onset idiopathic bilateral cataracts	(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)	8 weeks
Secondary	To assess other manifestations of CTX within patients presenting with idiopathic bilateral cataracts.	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