Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
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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.
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)
Secondary Outcome Measures :
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.
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Layout table for eligibility information
Ages Eligible for Study:
2 Years to 21 Years (Child, Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Early-Onset Idiopathic Bilateral Cataracts
The patient has a diagnosis of idiopathic bilateral cataracts.
Between the ages of 2 to 21 years at the time of diagnosis
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.