Ophthalmology and Visual Sciences

Purpose of study:
The purpose of this study is to understand how common a condition called CTX is in people who have been diagnosed with cataract, or a clouding of the lens, in both eyes when they were younger.

What is CTX?
CTX is a rare but treatable condition where people do not make bile acids normally. CTX may be associated with cataracts that were diagnosed at a young age and has an unknown cause.

What is involved in this study?
Potential study participants will be asked to come to the Froedtert & the Medical College of Wisconsin Eye Institute for a one-time study visit, which should take about one hour. During the visit, you will be asked to review a consent form that describes the study in further detail and if you decided to join the study, you will be asked to sign the consent form. A health history, current medications taken and health history of your family members will be obtained. Additionally, 1 tube of blood and a urine sample will be taken to test for certain substances that may indicate you have CTX.

A total of about 500 people, both children and adults are expected to participate in this study nationally, including about 30 at Froedtert & the Medical College of Wisconsin Eye Institute and Children’s Hospital of Wisconsin.

Compensation:
Research participants will receive a $50 stipend for the study visit.

You may be eligible to participate in this study if you meet these criteria.

1. A doctor has told you that you have cataracts in both eyes, and the cause is unknown.
2. You were between 2 to 21 years old at the time you were diagnosed with cataracts in both eyes.

More Information:
Additional information about the Retrophin CTX Prevalence Cataract study can be found at ClinicalTrials.gov.

Contact Katie McKenney with questions. (414) 955-7866 or email

IRB Approval: CHW16/127, 10/07/2017