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.
Brief Title
Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
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.
Completion Date
Completion Date Type
Actual
Conditions
Cerebrotendinous Xanthomatosis (CTX)
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
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
Inclusion 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
1. The patient has a diagnosis of idiopathic bilateral cataracts
2. Between the ages of 2 to 21 years at the time of diagnosis
Gender
All
Gender Based
false
Keywords
Cerebrotendinous Xanthomatosis
CTX Prevalence Study
CTX
Idiopathic Bilateral Cataracts
Cataracts
Bilateral Cataracts
Early-Onset Idiopathic Bilateral Cataracts
Observational Study
Ophthalmology
Healthy Volunteers
No
Last Update Post Date
Last Update Post Date Type
Actual
Last Update Submit Date
Maximum Age
21 Years
Minimum Age
2 Years
NCT Id
NCT02638220
Org Class
Industry
Org Full Name
Travere Therapeutics, Inc.
Org Study Id
018CTXX15001
Overall Status
Completed
Primary Completion Date
Primary Completion Date Type
Actual
Official Title
An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts
Primary Outcomes
Outcome Description
genetic test results
Outcome Measure
Number of Participants Who Had Positive Genetic Test Results
Outcome Time Frame
At genetic testing
Start Date
Status Verified Date
First Post Date
First Post Date Type
Estimated
First Submit Date
First Submit QC Date
Study Population
Early-Onset Idiopathic Bilateral Cataracts
Std Ages
Child
Adult
Maximum Age Number (converted to Years and rounded down)
21
Minimum Age Number (converted to Years and rounded down)
2
Investigators
Investigator Type
Principal Investigator
Investigator Name
Norman Medow
Investigator Email
nmedow@montefiore.org
Investigator Phone