Current Environment:


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.


Cerebrotendinous Xanthomatosis (CTX)

Recruitment Status

Unknown status

Eligibility Criteria

Inclusion Criteria:

The patient has a diagnosis of idiopathic bilateral cataracts.
Between the ages of 2 to 21 years at the time of diagnosis

Exclusion Criteria:

The patient has a diagnosis of cataracts with known etiology other than CTX.
The patient has a diagnosis of CTX.
The patient has cataracts caused by cataractogenic treatments.
The patient has taken or is currently taking cholic acid or chenodeoxycholic acid.
The patient has participated in an interventional clinical trial in the past 30 days.
The patient and/or their parent/legal guardian, in the opinion of the Investigator, is unable to adhere to the requirements of the study.



Min Age

2 Years

Max Age

21 Years

Download Date

November 9, 2018

Principal Investigator


Primary Contact Information

Retrophin Medical Information


For more information on this trial, visit


For more information and to contact the study team:

Cerebrotendinous Xanthomatosis (CTX) Prevalence Study NCT02638220 Retrophin Medical Information 1-877-659-5518