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Trial record 2 of 7 for:    Retrophin

Cerebrotendinous Xanthomatosis (CTX) Prevalence Study

This study is currently recruiting participants.
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Verified September 2017 by Retrophin, Inc.
Information provided by (Responsible Party):
Retrophin, Inc. Identifier:
First received: November 23, 2015
Last updated: September 13, 2017
Last verified: September 2017
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.

Cerebrotendinous Xanthomatosis (CTX)

Study Type: Observational
Study Design: 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

Resource links provided by NLM:

Further study details as provided by Retrophin, Inc.:

Primary Outcome Measures:
  • 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:
  • 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.

Estimated Enrollment: 500
Study Start Date: September 2015
Estimated Study Completion Date: December 2018
Estimated Primary Completion Date: December 2018 (Final data collection date for primary outcome measure)

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.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT02638220

Contact: Retrophin Medical Information 1-877-659-5518

  Show 34 Study Locations
Sponsors and Collaborators
Retrophin, Inc.
  More Information

Responsible Party: Retrophin, Inc. Identifier: NCT02638220     History of Changes
Other Study ID Numbers: 018CTXX15001
Study First Received: November 23, 2015
Last Updated: September 13, 2017

Keywords provided by Retrophin, Inc.:
Cerebrotendinous Xanthomatosis
CTX Prevalence Study
Idiopathic Bilateral Cataracts
Bilateral Cataracts
Early-Onset Idiopathic Bilateral Cataracts
Observational Study

Additional relevant MeSH terms:
Xanthomatosis, Cerebrotendinous
Lens Diseases
Eye Diseases
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn processed this record on September 21, 2017