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Completed

NCT Number: NCT02638220

Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

Iiopathic bilateral cataracts occur in many children with Cerebrotendinous Xanthomatosis (CTX) so the opportunity to use contact with health care providers in connection with pediatric cataract evaluation and treatment is a promising avenue for disease detection and prevention.

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Key information

Conditions

Cerebrotendinous Xanthomatosis (CTX) Cataract Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Genetic Diseases, Inborn Lens Diseases Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Xanthomatosis Xanthomatosis, Cerebrotendinous

Age range

2 year–21 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Travere Investigational Site, Birmingham, Alabama, United States

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • The patient has a diagnosis of cataracts with known etiology other than CTX
  • The patient has a diagnosis of CTX
  • The patient has cataracts caused by cataractogenic treatments
  • The patient has taken or is currently taking cholic acid or chenodeoxycholic acid
  • The patient has participated in an interventional clinical trial in the past 30 days
  • The patient and/or their parent/legal guardian, in the opinion of the Investigator, is unable to adhere to the requirements of the study

Treatment and study plan

Primary outcomes

  1. Number of Participants Who Had Positive Genetic Test Results

    Time frame: At genetic testing

    genetic test results

Sponsors and collaborators

Lead sponsor

Travere Therapeutics, Inc.

Industry

Registry information

Official study title

An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts

Important dates

Study start
2015
Primary completion
2021
Study completion
2021
First posted
Dec 23, 2015
Registry last updated
Sep 19, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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