An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX)

Clinical Trial

Offered by: Nemours
Locations: Jacksonville, Fla.

Trial Name

An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX)

What is the trial about?

This study is to learn from those people who have cataracts at an early age from an unknown cause, what signs and symptoms of CTX, if any, they might have. This will help doctors in the future find and diagnose CTX earlier..

Who can participate?

Any child that was diagnosed with early-onset (affects someone younger than the age expected) idiopathic (unknown cause) bilateral (in both eyes) cataracts (clouding of the eye’s natural lens), between the ages of 2 and 21 years old.

What is involved?

There will be one blood sample obtained from your child (approx. 3/5 of a teaspoon) and an optional urine sample from your child, both to test for indicators of CTX.

The length of your child’s participation will be from the time you sign the parental permission consent form, (and if applicable, your child signs the assent form), until the results of the CTX testing have been obtained and reported to you. For those participants that require additional genetic testing, participation ends after reporting of genetic test results to you, (usually 4-8 weeks). There are 2 study visits.