Ignite Creation Date:
2025-12-24 @ 11:49 AM
Ignite Modification Date:
2025-12-24 @ 11:49 AM
Study NCT ID:
NCT04833361
Status:
COMPLETED
Last Update Posted:
2025-10-02
First Post:
2021-04-05
Is Possible Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Potential Environmental Causes of Uveal Coloboma
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D003103', 'term': 'Coloboma'}, {'id': 'D008850', 'term': 'Microphthalmos'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}], 'ancestors': [{'id': 'D005124', 'term': 'Eye Abnormalities'}, {'id': 'D005128', 'term': 'Eye Diseases'}, {'id': 'D015785', 'term': 'Eye Diseases, Hereditary'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 76}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2023-06-20', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-09-30', 'completionDateStruct': {'date': '2025-03-17', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2025-10-01', 'studyFirstSubmitDate': '2021-04-05', 'studyFirstSubmitQcDate': '2021-04-05', 'lastUpdatePostDateStruct': {'date': '2025-10-02', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2021-04-06', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-03-17', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': '% of participants with x exposure compared to historical data', 'timeFrame': 'ongoing', 'description': '% of participants with x exposure compared to historical data from NBDPS study.'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Questionnaire', 'Microphthalmia', 'Birth Defects', 'Natural History'], 'conditions': ['Coloboma']}, 'descriptionModule': {'briefSummary': 'Background:\n\nUveal coloboma is a congenital eye malformation. It is thought to be a genetic condition. But it might have environmental causes as well. Researchers want to study the mothers of children with coloboma. They will use parts of the National Birth Defects Prevention Study (NBDPS) Mother Questionnaire. NBDPS was a large study of birth defects. It collected data from 1997 to 2011. Researchers will use NBDPS and NIH data as well as the new survey to produce data that can serve as a basis for further study.\n\nObjective:\n\nTo explore maternal factors and exposures during the first trimester of pregnancy as potential causes of uveal coloboma and to correlate exposure data to clinical data from affected children.\n\nEligibility:\n\nMothers of probands with coloboma who have taken part in NIH study 06-EI-0230, 04-EI-0039, or 13-EI-0049.\n\nDesign:\n\nThis is a hybrid study. It will use existing data from NBDPS and NIH studies. It will also use NBDPS for a new survey of mothers of children with coloboma.\n\nParticipants will take the survey by phone. Their pregnancy records may be reviewed. They will be asked about:\n\nImportant dates\n\nHealth and medicines\n\nTobacco, alcohol, and substance use\n\nParents occupations\n\nFamily demographics.\n\nThe survey will take 1 hour or less to complete.\n\nSome data were obtained in past NIH studies. These data are largely from children. Some family data may be used as well. For example, eye exam data, gene test results, and family history of coloboma may be used. If a participant did not consent to the future use of their data, then their data will not be used.\n\nData will be stored in a secure NIH database.\n\n...', 'detailedDescription': 'Study Description:\n\nThis evaluation of potential environmental causes of coloboma explores the experiences of a large cohort of mothers of children with uveal coloboma using portions of the National Birth Defects Prevention Study (NBDPS) Mother Questionnaire. It is postulated that maternal hypothyroidism and in utero alcohol exposure are found at higher rates in this cohort than in rates found in the general population. The goal is to produce descriptive statistic that could serve as a basis for further epidemiologic studies.\n\nObjectives:\n\nThe primary objective is to explore maternal factors and exposures during the first trimester of pregnancy as potential causes of uveal coloboma and to correlate these exposures with the clinical presentation of the affected child/children.'}, 'eligibilityModule': {'sex': 'FEMALE', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '100 Years', 'minimumAge': '18 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Up to 180 mothers of probands with coloboma that have previously been consented to an NIH protocol studying coloboma.', 'healthyVolunteers': False, 'eligibilityCriteria': '* INCLUSION CRITERIA:\n* mothers of probands with coloboma that have previously been consented to an NIH protocol studying coloboma.'}, 'identificationModule': {'nctId': 'NCT04833361', 'briefTitle': 'Potential Environmental Causes of Uveal Coloboma', 'organization': {'class': 'NIH', 'fullName': 'National Institutes of Health Clinical Center (CC)'}, 'officialTitle': 'Pilot Evaluation of Potential Environmental Causes of Uveal Coloboma', 'orgStudyIdInfo': {'id': '10000366'}, 'secondaryIdInfos': [{'id': '000366-EI'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Mothers', 'description': 'Mothers of children with coloboma.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'country': 'United States', 'facility': 'National Eye Institute (NEI)', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}], 'overallOfficials': [{'name': 'Brian P Brooks, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'National Eye Institute (NEI)'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Eye Institute (NEI)', 'class': 'NIH'}, 'responsibleParty': {'type': 'SPONSOR'}}}}