CTX and Idiopathic Bilateral Cataracts in Pediatric Patients



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CTX is typically a highly progressive disease, with case reports of symptoms that first appear at any time from birth through adulthood and then worsen over time. Because idiopathic bilateral cataracts occur at an early age in many children with CTX, biomarker testing of these children presents an opportunity for diagnosing children with CTX. Eligible participants will be asked to give a small blood sample and urine sample, and may have genetic testing done to see if they have the gene for CTX. This study will take place on 1 visit for approximately 30 minutes.

Who Do I Contact?

If you are interested in participating in the study or want to learn more please contact our study team at liug [at] chop.edu or 267-425-2063.

Eligibility & Criteria

IRB #:
Official Title:
An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed with Early-Onset Idiopathic Bilateral Cataracts
Study Phase:
Not Applicable
Eligible Age Range:
2 - 21 Years
Study Categories: