Ignite Creation Date:
2025-12-24 @ 7:10 PM
Ignite Modification Date:
2026-02-25 @ 8:59 PM
Study NCT ID:
NCT00108303
Status:
COMPLETED
Last Update Posted:
2016-01-07
First Post:
2005-04-14
Is Gene Therapy:
True
Has Adverse Events:
True
Brief Title:
Genetic Research in Schizophrenia Using DNA Markers and Clinical Phenotypes
Sponsor:
Organization:
Raw JSON
{'hasResults': True, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D012559', 'term': 'Schizophrenia'}], 'ancestors': [{'id': 'D019967', 'term': 'Schizophrenia Spectrum and Other Psychotic Disorders'}, {'id': 'D001523', 'term': 'Mental Disorders'}]}}, 'resultsSection': {'moreInfoModule': {'pointOfContact': {'email': 'Robert.Freedman@ucdenver.edu', 'phone': '3037244940', 'title': 'Dr. Robert Freedman', 'organization': 'VA'}, 'certainAgreement': {'piSponsorEmployee': True}, 'limitationsAndCaveats': {'description': 'Genetic linkage and association do not replicate well across studies. This study should be viewed in this context.'}}, 'adverseEventsModule': {'timeFrame': '1 year', 'description': 'People were checked for bruising at the time of study.', 'eventGroups': [{'id': 'EG000', 'title': 'Schizophrenia Probands', 'description': 'Schizophrenia probands as diagnosed as having schizophrenia', 'otherNumAtRisk': 179, 'otherNumAffected': 0, 'seriousNumAtRisk': 179, 'seriousNumAffected': 0}, {'id': 'EG001', 'title': 'Schizophrenia Relatives', 'description': 'Schizophrenia relatives who siblings or children of persons with schizophrenia', 'otherNumAtRisk': 179, 'otherNumAffected': 0, 'seriousNumAtRisk': 179, 'seriousNumAffected': 0}, {'id': 'EG002', 'title': 'Controls', 'description': 'Controls who do not have personal or family history of schizophrenia', 'otherNumAtRisk': 179, 'otherNumAffected': 0, 'seriousNumAtRisk': 179, 'seriousNumAffected': 0}], 'frequencyThreshold': '0'}, 'outcomeMeasuresModule': {'outcomeMeasures': [{'type': 'PRIMARY', 'title': 'Genetic Linkage', 'denoms': [{'units': 'Participants', 'counts': [{'value': '538', 'groupId': 'OG000'}]}], 'groups': [{'id': 'OG000', 'title': 'Group 1', 'description': 'Subjects who receive genetic study.'}], 'classes': [{'categories': [{'measurements': [{'value': '5.2', 'groupId': 'OG000'}]}]}], 'analyses': [{'groupIds': ['OG000'], 'paramType': 'Log (odd ratio)', 'ciNumSides': 'TWO_SIDED', 'paramValue': '5.2', 'nonInferiorityType': 'SUPERIORITY_OR_OTHER', 'testedNonInferiority': False}, {'pValue': '<0.001', 'groupIds': ['OG000'], 'ciNumSides': 'TWO_SIDED', 'pValueComment': 'This parameter was estimated by simulating 1000 samples with random genotypes and finding no value equal to or greater than 5.2.', 'statisticalMethod': 'Simulation', 'nonInferiorityType': 'SUPERIORITY_OR_OTHER', 'testedNonInferiority': False}], 'paramType': 'NUMBER', 'timeFrame': 'ten years', 'description': 'Log of the Odds for Linkage, a standard genetic analysis metric. The number shown as a result is from a polymorphism in the promoter of the gene for the alpha7 nicotinic receptor on chromosome. Its presence in the individuals in this study, considering all three groups in one analysis, is compared to what of P50 sensory gating. P50 is a Positive wave in scalp-recorded auditory evoked potential that occurs 50 msec after the sound stimulus. P50 sensory gating is the decrement in this wave to the second of repeated sounds. The log of the odds is the common logarithm of the ratio of the odds that the gene polymorphism and P50 sensory gating are associated versus the odds that they are both distributed in the individuals at random. It is similar to the more common chi squared.', 'unitOfMeasure': 'log (odds ratio)', 'reportingStatus': 'POSTED', 'populationDescription': 'People with schizophrenia and their relatives in families and controls as members of single families were used to establish the log of the odds ratio.'}, {'type': 'PRIMARY', 'title': 'Heritability Coefficient', 'denoms': [{'units': 'Participants', 'counts': [{'value': '179', 'groupId': 'OG000'}, {'value': '179', 'groupId': 'OG001'}, {'value': '180', 'groupId': 'OG002'}]}, {'units': 'Heritability', 'counts': [{'value': '1', 'groupId': 'OG000'}, {'value': '1', 'groupId': 'OG001'}, {'value': '1', 'groupId': 'OG002'}]}], 'groups': [{'id': 'OG000', 'title': 'Schizophrenia Probands', 'description': 'Persons who have schizophrenia as determined by diagnosis'}, {'id': 'OG001', 'title': 'Schizophrenia Relatives', 'description': 'Persons who are siblings or children of someone with schizophrenia'}, {'id': 'OG002', 'title': 'Controls', 'description': 'Persons who do not have schizophrenia themselves and whose relatives do not have schizophrenia'}], 'classes': [{'categories': [{'measurements': [{'value': '0.5', 'groupId': 'OG000'}, {'value': '0.5', 'groupId': 'OG001'}, {'value': '0.1', 'groupId': 'OG002'}]}]}], 'analyses': [{'pValue': '0.001', 'groupIds': ['OG000', 'OG001', 'OG002'], 'ciNumSides': 'TWO_SIDED', 'groupDescription': 'The coefficient of segregation versus no segregation of the P50 sensory gating percent in families with schizophrenia.', 'statisticalMethod': "Firsher's transform r to Z", 'nonInferiorityType': 'SUPERIORITY_OR_OTHER', 'testedNonInferiority': False}], 'paramType': 'NUMBER', 'timeFrame': '5 years', 'description': "h squared which ranges from 0 to 1. This number is similar to the more standard Pearson's correlation coefficient, except that the variable, in this case P50 sensory gating, is correlated across the statuses: schizophrenia proband (has the illness), schizophrenia relative (not ill but relative of someone who is), or control (not ill and has no known ill relative, P50 is a Positive wave in scalp-recorded auditory evoked potential that occurs 50 msec after the sound stimulus. P50 sensory gating is the decrement in this wave to the second of repeated sounds.", 'unitOfMeasure': 'coefficient', 'reportingStatus': 'POSTED', 'typeUnitsAnalyzed': 'Heritability', 'denomUnitsSelected': 'Participants', 'populationDescription': 'Schizophrenia probands and relatives and controls.'}, {'type': 'PRIMARY', 'title': 'Log of the ODDS of Linkage', 'denoms': [{'units': 'Participants', 'counts': [{'value': '179', 'groupId': 'OG000'}, {'value': '180', 'groupId': 'OG001'}, {'value': '180', 'groupId': 'OG002'}]}], 'groups': [{'id': 'OG000', 'title': 'Schizophrenia Probands', 'description': 'Persons who meet DSM-IV diagnostic criteria for schizophrenia.'}, {'id': 'OG001', 'title': 'Schizophrenia Relatives', 'description': 'Persons who are relatives of probands in Group 1.'}, {'id': 'OG002', 'title': 'Controls', 'description': 'Persons who are not relatives of persons with schizophrenia and do not have schizophrenia themselves.'}], 'classes': [{'categories': [{'measurements': [{'value': '5.2', 'groupId': 'OG000'}, {'value': '5.2', 'groupId': 'OG001'}, {'value': '1', 'groupId': 'OG002'}]}]}], 'paramType': 'NUMBER', 'timeFrame': '1 day', 'description': 'Log of the ODDS ratio of Linkage divided by the ODDS of no linkage from a maximum likelihood analysis conducted using the statistical program LINKAGE', 'unitOfMeasure': 'units on a log scale', 'reportingStatus': 'POSTED', 'populationDescription': 'Probands with schizophrenia, their relatives, and controls. The log of the odds ratio summarizes data from the entire study population.'}]}, 'participantFlowModule': {'groups': [{'id': 'FG000', 'title': 'Schizophrenia Probands', 'description': 'Persons who meet DSM-IV diagnostic criteria for schizophrenia or schizoaffective disorder.'}, {'id': 'FG001', 'title': 'Schizophrenia Relatives', 'description': 'Subjects who are first degree relatives of subjects in Arm 1.'}, {'id': 'FG002', 'title': 'Controls', 'description': 'Subjects who are unrelated to persons with schizophrenia and do not fulfill criteria for schizophrenia themselves.'}], 'periods': [{'title': 'Overall Study', 'milestones': [{'type': 'STARTED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '179'}, {'groupId': 'FG001', 'numSubjects': '179'}, {'groupId': 'FG002', 'numSubjects': '180'}]}, {'type': 'COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '179'}, {'groupId': 'FG001', 'numSubjects': '179'}, {'groupId': 'FG002', 'numSubjects': '180'}]}, {'type': 'NOT COMPLETED', 'achievements': [{'groupId': 'FG000', 'numSubjects': '0'}, {'groupId': 'FG001', 'numSubjects': '0'}, {'groupId': 'FG002', 'numSubjects': '0'}]}]}]}, 'baselineCharacteristicsModule': {'denoms': [{'units': 'Participants', 'counts': [{'value': '179', 'groupId': 'BG000'}, {'value': '179', 'groupId': 'BG001'}, {'value': '180', 'groupId': 'BG002'}, {'value': '538', 'groupId': 'BG003'}]}], 'groups': [{'id': 'BG000', 'title': 'Schizophrenia Probands', 'description': 'Persons who meet DSM-IV criteria for schizophrenia or schizoaffective disorder'}, {'id': 'BG001', 'title': 'Schizophrenia Relatives', 'description': 'Persons who are first degree relatives of persons in Arm 1'}, {'id': 'BG002', 'title': 'Controls', 'description': 'Persons who are not related to persons in Arm 2 and do not have schizophrenia themselves.'}, {'id': 'BG003', 'title': 'Total', 'description': 'Total of all reporting groups'}], 'measures': [{'title': 'Age, Categorical', 'classes': [{'categories': [{'title': '<=18 years', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}, {'value': '0', 'groupId': 'BG003'}]}, {'title': 'Between 18 and 65 years', 'measurements': [{'value': '179', 'groupId': 'BG000'}, {'value': '179', 'groupId': 'BG001'}, {'value': '180', 'groupId': 'BG002'}, {'value': '538', 'groupId': 'BG003'}]}, {'title': '>=65 years', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}, {'value': '0', 'groupId': 'BG003'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Age, Continuous', 'classes': [{'categories': [{'measurements': [{'value': '42', 'groupId': 'BG000', 'lowerLimit': '21', 'upperLimit': '63'}, {'value': '41', 'groupId': 'BG001', 'lowerLimit': '20', 'upperLimit': '62'}, {'value': '42', 'groupId': 'BG002', 'lowerLimit': '20', 'upperLimit': '63'}, {'value': '42', 'groupId': 'BG003', 'lowerLimit': '21', 'upperLimit': '63'}]}]}], 'paramType': 'MEAN', 'description': 'Age at study was taken by asking the subjects how old they were.', 'unitOfMeasure': 'years', 'dispersionType': 'INTER_QUARTILE_RANGE'}, {'title': 'Sex: Female, Male', 'classes': [{'categories': [{'title': 'Female', 'measurements': [{'value': '97', 'groupId': 'BG000'}, {'value': '85', 'groupId': 'BG001'}, {'value': '93', 'groupId': 'BG002'}, {'value': '275', 'groupId': 'BG003'}]}, {'title': 'Male', 'measurements': [{'value': '82', 'groupId': 'BG000'}, {'value': '94', 'groupId': 'BG001'}, {'value': '87', 'groupId': 'BG002'}, {'value': '263', 'groupId': 'BG003'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Ethnicity (NIH/OMB)', 'classes': [{'categories': [{'title': 'Hispanic or Latino', 'measurements': [{'value': '21', 'groupId': 'BG000'}, {'value': '23', 'groupId': 'BG001'}, {'value': '28', 'groupId': 'BG002'}, {'value': '72', 'groupId': 'BG003'}]}, {'title': 'Not Hispanic or Latino', 'measurements': [{'value': '158', 'groupId': 'BG000'}, {'value': '156', 'groupId': 'BG001'}, {'value': '152', 'groupId': 'BG002'}, {'value': '466', 'groupId': 'BG003'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '0', 'groupId': 'BG000'}, {'value': '0', 'groupId': 'BG001'}, {'value': '0', 'groupId': 'BG002'}, {'value': '0', 'groupId': 'BG003'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Race (NIH/OMB)', 'classes': [{'categories': [{'title': 'American Indian or Alaska Native', 'measurements': [{'value': '5', 'groupId': 'BG000'}, {'value': '5', 'groupId': 'BG001'}, {'value': '5', 'groupId': 'BG002'}, {'value': '15', 'groupId': 'BG003'}]}, {'title': 'Asian', 'measurements': [{'value': '6', 'groupId': 'BG000'}, {'value': '6', 'groupId': 'BG001'}, {'value': '6', 'groupId': 'BG002'}, {'value': '18', 'groupId': 'BG003'}]}, {'title': 'Native Hawaiian or Other Pacific Islander', 'measurements': [{'value': '4', 'groupId': 'BG000'}, {'value': '4', 'groupId': 'BG001'}, {'value': '4', 'groupId': 'BG002'}, {'value': '12', 'groupId': 'BG003'}]}, {'title': 'Black or African American', 'measurements': [{'value': '40', 'groupId': 'BG000'}, {'value': '41', 'groupId': 'BG001'}, {'value': '40', 'groupId': 'BG002'}, {'value': '121', 'groupId': 'BG003'}]}, {'title': 'White', 'measurements': [{'value': '61', 'groupId': 'BG000'}, {'value': '60', 'groupId': 'BG001'}, {'value': '60', 'groupId': 'BG002'}, {'value': '181', 'groupId': 'BG003'}]}, {'title': 'More than one race', 'measurements': [{'value': '33', 'groupId': 'BG000'}, {'value': '33', 'groupId': 'BG001'}, {'value': '34', 'groupId': 'BG002'}, {'value': '100', 'groupId': 'BG003'}]}, {'title': 'Unknown or Not Reported', 'measurements': [{'value': '30', 'groupId': 'BG000'}, {'value': '30', 'groupId': 'BG001'}, {'value': '31', 'groupId': 'BG002'}, {'value': '91', 'groupId': 'BG003'}]}]}], 'paramType': 'COUNT_OF_PARTICIPANTS', 'unitOfMeasure': 'Participants'}, {'title': 'Region of Enrollment', 'classes': [{'title': 'United States', 'categories': [{'measurements': [{'value': '179', 'groupId': 'BG000'}, {'value': '179', 'groupId': 'BG001'}, {'value': '180', 'groupId': 'BG002'}, {'value': '538', 'groupId': 'BG003'}]}]}], 'paramType': 'NUMBER', 'unitOfMeasure': 'participants'}, {'title': 'Sensory gating ratio', 'classes': [{'categories': [{'measurements': [{'value': '68', 'spread': '12', 'groupId': 'BG000'}, {'value': '49', 'spread': '16', 'groupId': 'BG001'}, {'value': '34', 'spread': '9', 'groupId': 'BG002'}, {'value': '58', 'spread': '12', 'groupId': 'BG003'}]}]}], 'paramType': 'MEAN', 'description': 'Ratio of the positive 50 millisecond component amplitude of the vertex auditory evoked potential in response to the second of \\\\paired auditory tones', 'unitOfMeasure': 'percent', 'dispersionType': 'STANDARD_DEVIATION'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'dna'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 538}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2004-01'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2015-12', 'completionDateStruct': {'date': '2008-12', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2015-12-02', 'studyFirstSubmitDate': '2005-04-14', 'resultsFirstSubmitDate': '2014-11-03', 'studyFirstSubmitQcDate': '2005-04-14', 'lastUpdatePostDateStruct': {'date': '2016-01-07', 'type': 'ESTIMATED'}, 'resultsFirstSubmitQcDate': '2015-12-02', 'studyFirstPostDateStruct': {'date': '2005-04-15', 'type': 'ESTIMATED'}, 'resultsFirstPostDateStruct': {'date': '2016-01-07', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2008-12', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Genetic Linkage', 'timeFrame': 'ten years', 'description': 'Log of the Odds for Linkage, a standard genetic analysis metric. The number shown as a result is from a polymorphism in the promoter of the gene for the alpha7 nicotinic receptor on chromosome. Its presence in the individuals in this study, considering all three groups in one analysis, is compared to what of P50 sensory gating. P50 is a Positive wave in scalp-recorded auditory evoked potential that occurs 50 msec after the sound stimulus. P50 sensory gating is the decrement in this wave to the second of repeated sounds. The log of the odds is the common logarithm of the ratio of the odds that the gene polymorphism and P50 sensory gating are associated versus the odds that they are both distributed in the individuals at random. It is similar to the more common chi squared.'}, {'measure': 'Heritability Coefficient', 'timeFrame': '5 years', 'description': "h squared which ranges from 0 to 1. This number is similar to the more standard Pearson's correlation coefficient, except that the variable, in this case P50 sensory gating, is correlated across the statuses: schizophrenia proband (has the illness), schizophrenia relative (not ill but relative of someone who is), or control (not ill and has no known ill relative, P50 is a Positive wave in scalp-recorded auditory evoked potential that occurs 50 msec after the sound stimulus. P50 sensory gating is the decrement in this wave to the second of repeated sounds."}, {'measure': 'Log of the ODDS of Linkage', 'timeFrame': '1 day', 'description': 'Log of the ODDS ratio of Linkage divided by the ODDS of no linkage from a maximum likelihood analysis conducted using the statistical program LINKAGE'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['schizophrenia'], 'conditions': ['Schizophrenia']}, 'descriptionModule': {'briefSummary': 'Schizophrenia has long been known to be an illness with significant evidence for a genetic predisposition. The purpose of this study is to determine the genetic abnormalities that cause childhood and adult onset schizophrenia.', 'detailedDescription': 'It is known from genetic linkage and gene expression studies that the alpha 7 nicotinic receptor gene is abnormally expressed in people with schizophrenia. The immediate objectives of this proposal support the long-term objectives of a comprehensive description of the pathophysiology of schizophrenia and new drug treatments by carefully defining the physiological genotype-phenotype relationship for a single candidate gene. Subjects and family members with a mental illness or who appear to have a mental illness will be asked to undergo an interview, perform some mental tests and have a blood, urine, and saliva sample taken one time.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '79 Years', 'minimumAge': '1 Year', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Persons with schizophrenia, their relatives, and controls', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Individuals thought to have schizophrenia or schizoaffective disorder, be the parent of such an individual, or be in the matched control group of unrelated individuals not thought to have schizophrenia or schizoaffective disorder\n\nExclusion Criteria:\n\n* Unable to give informed consent;\n* Psychotic disorder judged to be secondary to substance abuse, psychotic disorder that appears to be secondary to a known medical or neurological disorder, or severe mental retardation'}, 'identificationModule': {'nctId': 'NCT00108303', 'briefTitle': 'Genetic Research in Schizophrenia Using DNA Markers and Clinical Phenotypes', 'organization': {'class': 'FED', 'fullName': 'VA Office of Research and Development'}, 'officialTitle': 'Genetic Research in Schizophrenia Using DNA Markers and Clinical Phenotypes in Individuals Extensively Diagnosed and Genotyped', 'orgStudyIdInfo': {'id': 'ADRD-007-03S'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Diagnostic', 'description': 'A diagnostic was performed', 'interventionNames': ['Other: Diagnostic']}], 'interventions': [{'name': 'Diagnostic', 'type': 'OTHER', 'description': 'Diagnostic evaluation for schizophrenia. Schizophrenia includes schizophrenia and schizoaffective disorder.', 'armGroupLabels': ['Diagnostic']}]}, 'contactsLocationsModule': {'locations': [{'zip': '80220', 'city': 'Denver', 'state': 'Colorado', 'country': 'United States', 'facility': 'VA Eastern Colorado Health Care System, Denver', 'geoPoint': {'lat': 39.73915, 'lon': -104.9847}}], 'overallOfficials': [{'name': 'Robert Freedman, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'VA Eastern Colorado Health Care System, Denver'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'VA Office of Research and Development', 'class': 'FED'}, 'responsibleParty': {'type': 'SPONSOR'}}}}