Ignite Creation Date:
2025-12-24 @ 5:54 PM
Ignite Modification Date:
2026-01-04 @ 9:20 AM
Study NCT ID:
NCT00341068
Status:
TERMINATED
Last Update Posted:
2019-12-05
First Post:
2006-06-19
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['Ireland']}, 'conditionBrowseModule': {'meshes': [{'id': 'D009436', 'term': 'Neural Tube Defects'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D002971', 'term': 'Cleft Lip'}], 'ancestors': [{'id': 'D009421', 'term': 'Nervous System Malformations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008047', 'term': 'Lip Diseases'}, {'id': 'D009059', 'term': 'Mouth Diseases'}, {'id': 'D009057', 'term': 'Stomatognathic Diseases'}, {'id': 'D009056', 'term': 'Mouth Abnormalities'}, {'id': 'D018640', 'term': 'Stomatognathic System Abnormalities'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 7451}}, 'statusModule': {'overallStatus': 'TERMINATED', 'startDateStruct': {'date': '2000-01-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2019-12-02', 'completionDateStruct': {'date': '2019-12-02'}, 'lastUpdateSubmitDate': '2019-12-04', 'studyFirstSubmitDate': '2006-06-19', 'studyFirstSubmitQcDate': '2006-06-19', 'lastUpdatePostDateStruct': {'date': '2019-12-05', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2006-06-21', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Develop list of candidate genes for these disorders', 'timeFrame': 'Ongoing', 'description': 'Develop list of candidate genes for these disorders'}, {'measure': 'Identify intronic and coding polymorphisms in candidate genes', 'timeFrame': 'ongoing', 'description': 'Identify intronic and coding polymorphisms in candidate genes'}, {'measure': 'Score collected samples for association and/or linkage between specific alleles and disease status', 'timeFrame': 'ongoing', 'description': 'Score collected samples for association and/or linkage between specific alleles and disease status'}]}, 'conditionsModule': {'keywords': ['Birth Defects', 'Folic Acid', 'Gene-Environment Interactions', 'Neural Tube Defects', 'Cleft Lip'], 'conditions': ['Neural Tube Defects (NTDs)', 'Facial Cleft Defect', 'Hereditary Oral Clefts']}, 'descriptionModule': {'briefSummary': 'In a collaborative effort with the Health Research Board, the national organization for medical research in the Republic of Ireland, individuals with neural tube defects (NTDs) or facial cleft defects and their parents will be studied. With the exception of a few well-described syndromes most cases of NTDs and facial clefts are not inherited in a Mendelian fashion. Nearly all incident cases occur in families with no prior history of the defects. The observed recurrence risk in families with an NTD child is 10-12 fold higher than the general population suggesting that inherited factors modify this risk. Historically, the incidence of NTDs in Ireland was 5-8 fold higher than the USA. The aim of this study is to identify the gene(s) involved in these defects using standard genetic epidemiology approaches, transmission disequilibrium testing and gene mapping strategies. We will initially evaluate genes known to be involved in folate metabolism and pattern formation (development of the body). The major outcomes measured will be aggregate allele frequencies in case groups compared to controls. Biochemical parameters in red cells and plasma will also be measured. Comparisons will be made between the presence of genetics variants, biochemical parameters and clinical phenotype. Characterizing the genes associated with these defects should provide insight into the etiology and metabolic processes that may be involved, furthering prevention and intervention efforts.', 'detailedDescription': 'In a collaborative effort with the Health Research Board, the national organization for medical research in the Republic of Ireland, individuals with neural tube defects (NTDs) or facial cleft defects and their parents will be studied. With the exception of a few well-described syndromes most cases of NTDs and facial clefts are not inherited in a Mendelian fashion. Nearly all incident cases occur in families with no prior history of the defects. However, the observed recurrence risk in families with an NTD child is 10-20 fold higher than the general population incidence suggesting that inherited factors modify this risk. Historically, the incidence of NTDs in Ireland was 5-8 fold higher than the USA. The aim of this study is to identify the gene(s) involved in these defects using standard genetic epidemiology approaches, transmission disequilibrium testing and gene mapping strategies. We will initially evaluate genes known to be involved in folate metabolism and pattern formation (development of the body). The major outcomes measured will be aggregate allele frequencies in case groups compared to controls. Biochemical parameters in red blood cells and plasma will also be measured. Comparisons will be made between the presence of genetics variants, biochemical parameters and clinical phenotype. Characterizing the genes associated with these defects should provide insight into the etiology and metabolic processes that may be involved, furthering prevention and intervention efforts.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '85 Years', 'healthyVolunteers': False, 'eligibilityCriteria': '* INCLUSION CRITERIA:\n\nEligible participants are children and adults with an NTD and their parents residing in the Republic of Ireland, Northern Ireland and the United Kingdom\n\nNTDs are defined to include all forms of spina bifida aperta (meningocele, meningomyelocele), encephalocele, anencephaly, rachischisis, iniencephaly and lipomeningocele. Hydrocephalus, hydranencephaly, dermal sinus and spina bifida occulta do not qualify as NTDs.\n\nFor oral clefts, eligible participants are children and adults with a facial cleft in Ireland and their parents.\n\nAll families with NTDs or clefts will be recruited for the study.\n\nEXCLUSION CRITERIA:\n\nThose with known syndromes will be excluded or analyzed separately.\n\nCases for whom both biologic parents are not available will be excluded from some components of triad (case, mother and father) analysis, although the data from the NTD case may be useful for other study components.'}, 'identificationModule': {'nctId': 'NCT00341068', 'briefTitle': 'Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population', 'organization': {'class': 'NIH', 'fullName': 'National Institutes of Health Clinical Center (CC)'}, 'officialTitle': 'Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population', 'orgStudyIdInfo': {'id': '999999053'}, 'secondaryIdInfos': [{'id': 'OH99-HG-N053'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'Cleft', 'description': 'children and adults with a cleft lip and/or cleft palate and their parents residing in the Republic of Ireland, Northern Ireland and the United Kingdom'}, {'label': 'NTD', 'description': 'children and adults with an NTD (neural tube defects) and their parents residing in the Republic of Ireland, Northern Ireland and the United Kingdom'}]}, 'contactsLocationsModule': {'locations': [{'zip': '20892', 'city': 'Bethesda', 'state': 'Maryland', 'country': 'United States', 'facility': 'National Human Genome Research Institute (NHGRI), 9000 Rockville Pike', 'geoPoint': {'lat': 38.98067, 'lon': -77.10026}}], 'overallOfficials': [{'name': 'Lawrence C Brody, Ph.D.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'National Human Genome Research Institute (NHGRI)'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'National Human Genome Research Institute (NHGRI)', 'class': 'NIH'}, 'responsibleParty': {'type': 'SPONSOR'}}}}