Ignite Creation Date:
2025-12-25 @ 4:27 AM
Ignite Modification Date:
2026-03-11 @ 2:53 PM
Study NCT ID:
NCT02638220
Status:
COMPLETED
Last Update Posted:
2024-09-19
First Post:
2015-11-23
Is Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
Cerebrotendinous Xanthomatosis (CTX) Prevalence Study
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D019294', 'term': 'Xanthomatosis, Cerebrotendinous'}, {'id': 'D002386', 'term': 'Cataract'}], 'ancestors': [{'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D014973', 'term': 'Xanthomatosis'}, {'id': 'D007905', 'term': 'Lens Diseases'}, {'id': 'D005128', 'term': 'Eye Diseases'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'cheryl.wongpofoo@travere.com', 'phone': '8889697879', 'title': 'Cheryl Wong Po Foo/Director, Clinical Development', 'organization': 'Travere Therapeutics, Inc.'}, 'certainAgreement': {'piSponsorEmployee': False, 'restrictiveAgreement': True}, 'limitationsAndCaveats': {'description': 'This was an observational study; no treatment was administered and therefore no efficacy assessment was conducted. The results presented are used to evaluate the prevalence of CTX in a patient population diagnosed with early-onset idiopathic bilateral cataracts.\n\nOnly SAEs that were related to a research procedure (eg, blood sample collection) were to be recorded.'}}, 'adverseEventsModule': {'timeFrame': '4 hours', 'description': 'Only Serious Adverse Events (SAEs) that were related to a research procedure (eg, blood sample collection) were to be recorded.', 'eventGroups': [{'id': 'EG000', 'title': 'Observational', 'description': 'Patients must have been between the ages of 2 and 21 at the time of diagnosis with idiopathic bilateral cataracts. Patients were excluded from the study if they had a diagnosis of cataracts with known etiology other than CTX, had cataracts caused by cataractogenic treatments, or the patient was taking cholic acid or chenodeoxycholic acid.', 'otherNumAtRisk': 442, 'deathsNumAtRisk': 442, 'otherNumAffected': 0, 'seriousNumAtRisk': 442, 'deathsNumAffected': 0, 'seriousNumAffected': 0}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Number of Participants Who Had Positive Genetic Test Results', 'denoms': [{'units': 'Participants', 'counts': [{'value': '442', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Participants With CTX', 'description': 'Participants with bilateral cataracts and CTX'}], 'classes': [{'categories': [{'measurements': [{'value': '4', 'groupId': 'OG000'}]}]}], 'paramType': 'NUMBER', 'timeFrame': 'At genetic testing', 'description': 'genetic test results', 'unitOfMeasure': 'Participants', 'reportingStatus': 'POSTED'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Participants With CTX', 'description': 'Patients must have been between the ages of 2 and 21 at the time of diagnosis with idiopathic bilateral cataracts. Patients were excluded from the study if they had a diagnosis of cataracts with known etiology other than CTX, had cataracts caused by cataractogenic treatments, or the patient was taking cholic acid or chenodeoxycholic acid.'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '442'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '426'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '16'}]}], 'dropWithdraws': [{'type': 'Lost to Follow-up', 'reasons': [{'groupId': 'FG000', 'numSubjects': '6'}]}, {'type': 'Withdrawal by Subject', 'reasons': [{'groupId': 'FG000', 'numSubjects': '3'}]}, {'type': 'Physician Decision', 'reasons': [{'groupId': 'FG000', 'numSubjects': '1'}]}, {'type': 'Withdrawn, sample error, non-adherence, illness', 'reasons': [{'groupId': 'FG000', 'numSubjects': '6'}]}]}], 'recruitmentDetails': 'Data were collected from 05 November 2015 through study completion on 19 February 2021.There were 43 sites in the United States included in the study.'}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '442', 'groupId': 'BG000'}]}], 'groups': [{'id': 'BG000', 'title': 'Observational', 'description': 'Patients must have been between the ages of 2 and 21 at the time of diagnosis with idiopathic bilateral cataracts. Patients were excluded from the study if they had a diagnosis of cataracts with known etiology other than CTX, had cataracts caused by cataractogenic treatments, or the patient was taking cholic acid or chenodeoxycholic acid.'}], 'measures': [{'title': 'Age, Continuous', 'classes': [{'categories': [{'measurements': [{'value': '11.1', 'groupId': 'BG000', 'lowerLimit': '0.1', 'upperLimit': '52.6'}]}]}], 'paramType': 'MEAN', 'unitOfMeasure': 'years', 'dispersionType': 'FULL_RANGE'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '206', 'groupId': 'BG000'}]}, {'title': 'Male', 'measurements': [{'value': '236', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Ethnicity (NIH/OMB)', 'classes': [{'categories': [{'title': 'Hispanic or Latino', 'measurements': [{'value': '71', 'groupId': 'BG000'}]}, {'title': 'Not Hispanic or Latino', 'measurements': [{'value': '340', 'groupId': 'BG000'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '31', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Race (NIH/OMB)', 'classes': [{'categories': [{'title': 'American Indian or Alaska Native', 'measurements': [{'value': '0', 'groupId': 'BG000'}]}, {'title': 'Asian', 'measurements': [{'value': '17', 'groupId': 'BG000'}]}, {'title': 'Native Hawaiian or Other Pacific Islander', 'measurements': [{'value': '4', 'groupId': 'BG000'}]}, {'title': 'Black or African American', 'measurements': [{'value': '62', 'groupId': 'BG000'}]}, {'title': 'White', 'measurements': [{'value': '296', 'groupId': 'BG000'}]}, {'title': 'More than one race', 'measurements': [{'value': '22', 'groupId': 'BG000'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '41', 'groupId': 'BG000'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Region of Enrollment', 'classes': [{'title': 'United States', 'categories': [{'measurements': [{'value': '442', 'groupId': 'BG000'}]}]}], 'paramType': 'NUMBER', 'unitOfMeasure': 'participants'}]}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2016-12-13', 'size': 631337, 'label': 'Study Protocol', 'hasIcf': False, 'hasSap': False, 'filename': 'Prot_000.pdf', 'typeAbbrev': 'Prot', 'uploadDate': '2023-10-27T12:55', 'hasProtocol': True}, {'date': '2021-05-28', 'size': 393529, 'label': 'Statistical Analysis Plan', 'hasIcf': False, 'hasSap': True, 'filename': 'SAP_001.pdf', 'typeAbbrev': 'SAP', 'uploadDate': '2022-02-07T19:40', 'hasProtocol': False}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 442}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2015-09'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-06', 'completionDateStruct': {'date': '2021-02-19', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2024-04-30', 'studyFirstSubmitDate': '2015-11-23', 'resultsFirstSubmitDate': '2023-06-08', 'studyFirstSubmitQcDate': '2015-12-18', 'lastUpdatePostDateStruct': {'date': '2024-09-19', 'type': 'ACTUAL'}, 'resultsFirstSubmitQcDate': '2024-04-30', 'studyFirstPostDateStruct': {'date': '2015-12-23', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2024-09-19', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-02-19', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Number of Participants Who Had Positive Genetic Test Results', 'timeFrame': 'At genetic testing', 'description': 'genetic test results'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Cerebrotendinous Xanthomatosis', 'CTX Prevalence Study', 'CTX', 'Idiopathic Bilateral Cataracts', 'Cataracts', 'Bilateral Cataracts', 'Early-Onset Idiopathic Bilateral Cataracts', 'Observational Study', 'Ophthalmology'], 'conditions': ['Cerebrotendinous Xanthomatosis (CTX)']}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': "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."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '21 Years', 'minimumAge': '2 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Early-Onset Idiopathic Bilateral Cataracts', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. The patient has a diagnosis of idiopathic bilateral cataracts\n2. Between the ages of 2 to 21 years at the time of diagnosis\n\nExclusion Criteria:\n\n1. The patient has a diagnosis of cataracts with known etiology other than CTX\n2. The patient has a diagnosis of CTX\n3. The patient has cataracts caused by cataractogenic treatments\n4. The patient has taken or is currently taking cholic acid or chenodeoxycholic acid\n5. The patient has participated in an interventional clinical trial in the past 30 days\n6. The patient and/or their parent/legal guardian, in the opinion of the Investigator, is unable to adhere to the requirements of the study'}, 'identificationModule': {'nctId': 'NCT02638220', 'briefTitle': 'Cerebrotendinous Xanthomatosis (CTX) Prevalence Study', 'organization': {'class': 'INDUSTRY', 'fullName': 'Travere Therapeutics, Inc.'}, 'officialTitle': 'An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts', 'orgStudyIdInfo': {'id': '018CTXX15001'}}, 'contactsLocationsModule': {'locations': [{'zip': '35294', 'city': 'Birmingham', 'state': 'Alabama', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 33.52066, 'lon': -86.80249}}, {'zip': '92093', 'city': 'La Jolla', 'state': 'California', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 32.84727, 'lon': -117.2742}}, {'zip': '90027', 'city': 'Los Angeles', 'state': 'California', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 34.05223, 'lon': -118.24368}}, {'zip': '90095', 'city': 'Los Angeles', 'state': 'California', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 34.05223, 'lon': -118.24368}}, {'zip': '94303', 'city': 'Palo Alto', 'state': 'California', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 37.44188, 'lon': -122.14302}}, {'zip': '80045', 'city': 'Aurora', 'state': 'Colorado', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 39.72943, 'lon': -104.83192}}, {'zip': '32608', 'city': 'Gainesville', 'state': 'Florida', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 29.65163, 'lon': -82.32483}}, {'zip': '32207', 'city': 'Jacksonville', 'state': 'Florida', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 30.33218, 'lon': -81.65565}}, {'zip': '30322', 'city': 'Atlanta', 'state': 'Georgia', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 33.749, 'lon': -84.38798}}, {'zip': '60611', 'city': 'Chicago', 'state': 'Illinois', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 41.85003, 'lon': -87.65005}}, {'zip': '46202', 'city': 'Indianapolis', 'state': 'Indiana', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 39.76838, 'lon': -86.15804}}, {'zip': '52242', 'city': 'Iowa City', 'state': 'Iowa', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 41.66113, 'lon': -91.53017}}, {'zip': '40202', 'city': 'Louisville', 'state': 'Kentucky', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 38.25424, 'lon': -85.75941}}, {'zip': '70121', 'city': 'New Orleans', 'state': 'Louisiana', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 29.95465, 'lon': -90.07507}}, {'zip': '21201', 'city': 'Baltimore', 'state': 'Maryland', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 39.29038, 'lon': -76.61219}}, {'zip': '02115', 'city': 'Boston', 'state': 'Massachusetts', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 42.35843, 'lon': -71.05977}}, {'zip': '48105', 'city': 'Ann Arbor', 'state': 'Michigan', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 42.27756, 'lon': -83.74088}}, {'zip': '48201', 'city': 'Detroit', 'state': 'Michigan', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 42.33143, 'lon': -83.04575}}, {'zip': '64108', 'city': 'Kansas City', 'state': 'Missouri', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 39.09973, 'lon': -94.57857}}, {'zip': '63103', 'city': 'St Louis', 'state': 'Missouri', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 38.62727, 'lon': -90.19789}}, {'zip': '10467', 'city': 'The Bronx', 'state': 'New York', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 40.84985, 'lon': -73.86641}}, {'zip': '27517', 'city': 'Chapel Hill', 'state': 'North Carolina', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 35.9132, 'lon': -79.05584}}, {'zip': '27708', 'city': 'Durham', 'state': 'North Carolina', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 35.99403, 'lon': -78.89862}}, {'zip': '45229', 'city': 'Cincinnati', 'state': 'Ohio', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 39.12711, 'lon': -84.51439}}, {'zip': '44106', 'city': 'Cleveland', 'state': 'Ohio', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 41.4995, 'lon': -81.69541}}, {'zip': '43205', 'city': 'Columbus', 'state': 'Ohio', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 39.96118, 'lon': -82.99879}}, {'zip': '73104', 'city': 'Oklahoma City', 'state': 'Oklahoma', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 35.46756, 'lon': -97.51643}}, {'zip': '97239-3098', 'city': 'Portland', 'state': 'Oregon', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 45.52345, 'lon': -122.67621}}, {'zip': '97223', 'city': 'Tigard', 'state': 'Oregon', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 45.43123, 'lon': -122.77149}}, {'zip': '19104', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': '19107', 'city': 'Philadelphia', 'state': 'Pennsylvania', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 39.95238, 'lon': -75.16362}}, {'zip': '29425', 'city': 'Charleston', 'state': 'South Carolina', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 32.77632, 'lon': -79.93275}}, {'zip': '38103', 'city': 'Germantown', 'state': 'Tennessee', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 35.08676, 'lon': -89.81009}}, {'zip': '37232', 'city': 'Nashville', 'state': 'Tennessee', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 36.16589, 'lon': -86.78444}}, {'zip': '77025', 'city': 'Houston', 'state': 'Texas', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}, {'zip': '77030', 'city': 'Houston', 'state': 'Texas', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 29.76328, 'lon': -95.36327}}, {'zip': '84113', 'city': 'Salt Lake City', 'state': 'Utah', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 40.76078, 'lon': -111.89105}}, {'zip': '23502', 'city': 'Norfolk', 'state': 'Virginia', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 36.84681, 'lon': -76.28522}}, {'zip': '23298', 'city': 'Richmond', 'state': 'Virginia', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 37.55376, 'lon': -77.46026}}, {'zip': '98105', 'city': 'Seattle', 'state': 'Washington', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 47.60621, 'lon': -122.33207}}, {'zip': '99204', 'city': 'Spokane', 'state': 'Washington', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 47.65966, 'lon': -117.42908}}, {'zip': '98405', 'city': 'Tacoma', 'state': 'Washington', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 47.25288, 'lon': -122.44429}}, {'zip': '26506', 'city': 'Morgantown', 'state': 'West Virginia', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 39.62953, 'lon': -79.9559}}, {'zip': '53226', 'city': 'Milwaukee', 'state': 'Wisconsin', 'country': 'United States', 'facility': 'Travere Investigational Site', 'geoPoint': {'lat': 43.0389, 'lon': -87.90647}}], 'overallOfficials': [{'name': 'Executive Director, Clinical Development Nephrology', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Travere Therapeutics, Inc.'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Travere Therapeutics, Inc.', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}