Offered by: Nemours Children's
Locations: Jacksonville, Fla.
Observational Study of Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patients With Cataracts
The purpose of the study is to better understand how many people who have been diagnosed with early-onset idiopathic bilateral cataracts may have a rare, but treatable disease called Cerebrotendinous Xanthomatosis (CTX). CTX is a disease where you do not make bile acids normally.
Anyone between the ages of 2 and 21 years old, who was diagnosed with early-onset (affects someone younger than the expected age) idiopathic (unknown cause) bilateral (in both eyes) cataracts (clouding of the eye's natural lens).
The study has 1 clinic visit at which time we will collect a blood and optional urine sample from your child. Once the blood has been drawn, your child's participation will last until the doctor notifies you of the results of the testing, usually about 4-8 weeks after the visit.
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