Clinical trial NCT02638220: Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Official title: An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Cerebrotendinous Xanthomatosis (CTX)
Keywords: Cerebrotendinous Xanthomatosis
CTX Prevalence Study
CTX
Idiopathic Bilateral Cataracts
Cataracts
Bilateral Cataracts
Early-Onset Idiopathic Bilateral Cataracts
Observational Study
Ophthalmology
Lead sponsor: Travere Therapeutics, Inc.
Sponsor class: INDUSTRY
First posted: 2015-12-23
Enrollment: 442
Sex: ALL
Minimum age (years): 2
Maximum age (years): 21
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Early-Onset Idiopathic Bilateral Cataracts

Brief summary: 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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Number of Participants Who Had Positive Genetic Test Results
timeFrame: At genetic testing
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: Travere Investigational Site
state: Alabama
city: La Jolla
country: United States
facility: Travere Investigational Site
state: California
city: Los Angeles
country: United States
facility: Travere Investigational Site
state: California
city: Los Angeles
country: United States
facility: Travere Investigational Site
state: California
city: Palo Alto
country: United States
facility: Travere Investigational Site
state: California
city: Aurora
country: United States
facility: Travere Investigational Site
state: Colorado
city: Gainesville
country: United States
facility: Travere Investigational Site
state: Florida
city: Jacksonville
country: United States
facility: Travere Investigational Site
state: Florida
city: Atlanta
country: United States
facility: Travere Investigational Site
state: Georgia
city: Chicago
country: United States
facility: Travere Investigational Site
state: Illinois
city: Indianapolis
country: United States
facility: Travere Investigational Site
state: Indiana
city: Iowa City
country: United States
facility: Travere Investigational Site
state: Iowa
city: Louisville
country: United States
facility: Travere Investigational Site
state: Kentucky
city: New Orleans
country: United States
facility: Travere Investigational Site
state: Louisiana
city: Baltimore
country: United States
facility: Travere Investigational Site
state: Maryland
city: Boston
country: United States
facility: Travere Investigational Site
state: Massachusetts
city: Ann Arbor
country: United States
facility: Travere Investigational Site
state: Michigan
city: Detroit
country: United States
facility: Travere Investigational Site
state: Michigan
city: Kansas City
country: United States
facility: Travere Investigational Site
state: Missouri
city: Saint Louis
country: United States
facility: Travere Investigational Site
state: Missouri
city: Bronx
country: United States
facility: Travere Investigational Site
state: New York
city: Chapel Hill
country: United States
facility: Travere Investigational Site
state: North Carolina
city: Durham
country: United States
facility: Travere Investigational Site
state: North Carolina
city: Cincinnati
country: United States
facility: Travere Investigational Site
state: Ohio
city: Cleveland
country: United States
facility: Travere Investigational Site
state: Ohio
city: Columbus
country: United States
facility: Travere Investigational Site
state: Ohio
city: Oklahoma City
country: United States
facility: Travere Investigational Site
state: Oklahoma
city: Portland
country: United States
facility: Travere Investigational Site
state: Oregon
city: Tigard
country: United States
facility: Travere Investigational Site
state: Oregon
city: Philadelphia
country: United States
facility: Travere Investigational Site
state: Pennsylvania
city: Philadelphia
country: United States
facility: Travere Investigational Site
state: Pennsylvania
city: Charleston
country: United States
facility: Travere Investigational Site
state: South Carolina
city: Germantown
country: United States
facility: Travere Investigational Site
state: Tennessee
city: Nashville
country: United States
facility: Travere Investigational Site
state: Tennessee
city: Houston
country: United States
facility: Travere Investigational Site
state: Texas
city: Houston
country: United States
facility: Travere Investigational Site
state: Texas
city: Salt Lake City
country: United States
facility: Travere Investigational Site
state: Utah
city: Norfolk
country: United States
facility: Travere Investigational Site
state: Virginia
city: Richmond
country: United States
facility: Travere Investigational Site
state: Virginia
city: Seattle
country: United States
facility: Travere Investigational Site
state: Washington
city: Spokane
country: United States
facility: Travere Investigational Site
state: Washington
city: Tacoma
country: United States
facility: Travere Investigational Site
state: Washington
city: Morgantown
country: United States
facility: Travere Investigational Site
state: West Virginia
city: Milwaukee
country: United States
facility: Travere Investigational Site
state: Wisconsin
Study officials:
affiliation: Travere Therapeutics, Inc.
name: Executive Director, Clinical Development Nephrology
role: STUDY_DIRECTOR
References: