CTX Retrophin

Principal Investigator: NicolaLongo
Keywords: bilateral cataracts , CTX Department: Pediatric Genetics
IRB Number: 00090396 Co Investigator:
Specialty: Ophthalmology, Pediatric, Pediatric Genetics
Sub Specialties: Pediatric Strabismus, Medical Genetics

Contact Information

CarrieBailey
carrie.bailey@hsc.utah.edu
8015873605

Brief Summary

The purpose of this study is to understand better 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 disease where people do not make bile acids normally.  In people who have CTX, one of the first signs of the disease is often cataracts from an unknown cause, at an early age. We and the sponsor (Retrophin) would like to learn what signs and symptoms of CTX people who have cataracts from an unknown cause may have.  This will help doctors in the future find and diagnose CTX earlier.

Primary Objective:
To calculate the prevalence of CTX in a patient population diagnosed up to age 21 with early-onset idiopathic bilateral cataracts 
Secondary Objective:
To assess other manifestations of CTX within patients presenting with idiopathic bilateral cataracts

Inclusion Criteria

A patient must meet all of the following criteria to be eligible for this study.
 
1. The patient and/or their parent/legal guardian is willing and able to provide signed informed
consent and the patient, if <18 years of age, is willing to provide assent if deemed able to do so. If
the patient is ≥ 18 years of age but has diminished capacity to provide informed consent, their
parent/legal guardian is willing and able to provide signed informed consent and the patient is
willing to provide assent, if deemed able to do so.
2. The patient has a diagnosis of idiopathic bilateral cataracts.
3. The patient is between the ages of 2 to 21 years old (inclusive) at the time of diagnosis with
idiopathic bilateral cataracts.

Exclusion Criteria

A patient who meets any of the following criteria will be excluded from this study.
 
1. The patient has a diagnosis of cataracts with known etiology other than CTX.
2. The patient has a diagnosis of CTX.
3. The patient has cataracts caused by cataractogenic treatments.
4. The patient has taken or is currently taking cholic acid or chenodeoxycholic acid.
5. The patient has participated in an interventional clinical trial in the past 30 days.
6. The patient and/or their parent/legal guardian, in the opinion of the Investigator, is unable to adhere
to the requirements of the study.