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Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
ClinicalTrials.gov Identifier: NCT02638220
Recruitment Status : Unknown
Verified November 2018 by Travere Therapeutics, Inc..
Recruitment status was:  Recruiting
First Posted : December 23, 2015
Last Update Posted : November 9, 2018
Information provided by (Responsible Party):
Travere Therapeutics, Inc.

Brief Summary:
This is an observational, multicenter study to determine the prevalence of Cerebrotendinous Xanthomatosis (CTX) in patient populations diagnosed with early-onset idiopathic bilateral cataracts. Patients who are potentially eligible for study participation will be identified through a chart review of patients who were seen at each study site prior to that site's initiation, or by entering care at the site while the site is participating in the trial.

Condition or disease
Cerebrotendinous Xanthomatosis (CTX)

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Study Type : Observational
Estimated Enrollment : 500 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts
Study Start Date : September 2015
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2018

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Cataract

Primary Outcome Measures :
  1. To calculate the prevalence of Cerebrotendinous Xanthomatosis (CTX) in a patient population diagnosed up to age 21 with early-onset idiopathic bilateral cataracts [ Time Frame: 8 weeks ]
    (by blood draw where plasma cholenstanol levels and/or urine bile alcohol results will be used to determine whether genetic testing is indicated. Genetic Testing, if indicated, will be used to determine the prevalence of CTX)

Secondary Outcome Measures :
  1. To assess other manifestations of CTX within patients presenting with idiopathic bilateral cataracts. [ Time Frame: 8 weeks ]
    Based on a patient reported, CTX disease-specific medical history for the patients diagnosed with CTX, the manifestations and symptoms related to the disease will be presented by body system.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   2 Years to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Early-Onset Idiopathic Bilateral Cataracts

Inclusion Criteria:

  1. The patient has a diagnosis of idiopathic bilateral cataracts.
  2. Between the ages of 2 to 21 years at the time of diagnosis

Exclusion Criteria:

  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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02638220

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Contact: Retrophin Medical Information 1-877-659-5518 medinfo@retrophin.com

Show Show 45 study locations
Sponsors and Collaborators
Travere Therapeutics, Inc.
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Responsible Party: Travere Therapeutics, Inc.
ClinicalTrials.gov Identifier: NCT02638220    
Other Study ID Numbers: 018CTXX15001
First Posted: December 23, 2015    Key Record Dates
Last Update Posted: November 9, 2018
Last Verified: November 2018
Keywords provided by Travere Therapeutics, Inc.:
Cerebrotendinous Xanthomatosis
CTX Prevalence Study
Idiopathic Bilateral Cataracts
Bilateral Cataracts
Early-Onset Idiopathic Bilateral Cataracts
Observational Study
Additional relevant MeSH terms:
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Xanthomatosis, Cerebrotendinous
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn