Ignite Creation Date:
2025-12-24 @ 11:47 PM
Ignite Modification Date:
2025-12-31 @ 6:04 PM
Study NCT ID:
NCT00041951
Status:
COMPLETED
Last Update Posted:
2016-06-01
First Post:
2002-07-19
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D004832', 'term': 'Epilepsy, Absence'}, {'id': 'D004827', 'term': 'Epilepsy'}, {'id': 'D012640', 'term': 'Seizures'}], 'ancestors': [{'id': 'D004829', 'term': 'Epilepsy, Generalized'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D000073376', 'term': 'Epileptic Syndromes'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'saliva'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 185}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '1998-12'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-05', 'completionDateStruct': {'date': '2014-07', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2016-05-31', 'studyFirstSubmitDate': '2002-07-19', 'studyFirstSubmitQcDate': '2002-07-19', 'lastUpdatePostDateStruct': {'date': '2016-06-01', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2002-07-22', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2014-07', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Saliva sample', 'timeFrame': 'at baseline'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Childhood Absence Epilepsy', 'CAE', 'Petit Mal', 'Epilepsy', 'Seizures', 'Genes', 'Inheritance', 'Genetics', 'Genetic Linkage'], 'conditions': ['Childhood Absence Epilepsy', 'Epilepsy', 'Seizures']}, 'descriptionModule': {'briefSummary': 'The purpose of our study is to identify gene(s) involved in the cause of childhood absence epilepsy (CAE).', 'detailedDescription': 'A high familial predisposition for epilepsy in patients with childhood absence epilepsy (CAE), also called petit mal epilepsy, suggests underlying genetic causes contributing to the disease. Several areas harboring potential absence epilepsy genes have been identified in the genome.\n\nThis study will further narrow down those areas and identify gene(s) involved in the cause of CAE by taking several approaches: 1. Comparing patients with CAE to healthy individuals without epilepsy and 2. Investigating whole families with many members affected with epilepsy).\n\nParticipation in this study requires an interview regarding medical and family history and saliva (spit) collection from all available family members of families with many epilepsy cases. For those families without a history of epilepsy, parents and children are asked to provide a small amount of saliva only. Healthy volunteers without epilepsy or a family history of seizures are asked to fill out an anonymous questionnaire and provide a small amount of saliva as well.\n\nAlthough the study is based at Mount Sinai School of Medicine in New York, all study materials can be sent to your home at no cost to participants or their insurance. For the collection of saliva, special containers are provided and they can be shipped back to Mount Sinai in the pre-paid envelope provided. Study materials can be completed at your convenience.\n\nResults from this study may enable scientists to understand the cause of absence seizures and, perhaps, other types of seizures as well and with this laying the foundation for better diagnosis and treatment of epilepsy patients in the future.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '3 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Whole families with many members affected with epilepsy or both parents and a child with CAE of families without other affected members (trios) and healthy individuals without epilepsy', 'healthyVolunteers': True, 'eligibilityCriteria': 'Patients and their families:\n\nInclusion Criteria:\n\n* Clinical diagnosis of classical (typical) Childhood Absence Epilepsy\n* Good seizure control\n* Must be able to give saliva sample\n\nExclusion Criteria:\n\n* History of non-febrile seizures prior to the onset of typical absence seizures\n* other neuropsychiatric or developmental disorders.'}, 'identificationModule': {'nctId': 'NCT00041951', 'briefTitle': 'Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study', 'organization': {'class': 'OTHER', 'fullName': 'Icahn School of Medicine at Mount Sinai'}, 'officialTitle': 'Search for Genes Influencing Childhood Absence Epilepsy Study', 'orgStudyIdInfo': {'id': 'GCO 07-1441'}, 'secondaryIdInfos': [{'id': 'R01NS037466', 'link': 'https://reporter.nih.gov/quickSearch/R01NS037466', 'type': 'NIH'}]}, 'armsInterventionsModule': {'armGroups': [{'label': 'CAE participants', 'description': 'Both parents and a child with CAE of families without other affected members (trios) or whole families with many members affected with epilepsy.'}, {'label': 'Controls', 'description': 'Healthy individuals without epilepsy and no family history of epilepsy.'}]}, 'contactsLocationsModule': {'locations': [{'zip': '10029', 'city': 'New York', 'state': 'New York', 'country': 'United States', 'facility': 'Icahn School of Medicine at Mount Sinai', 'geoPoint': {'lat': 40.71427, 'lon': -74.00597}}], 'overallOfficials': [{'name': 'Martina Durner, M.D.', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Icahn School of Medicine at Mount Sinai'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Icahn School of Medicine at Mount Sinai', 'class': 'OTHER'}, 'collaborators': [{'name': 'National Institute of Neurological Disorders and Stroke (NINDS)', 'class': 'NIH'}], 'responsibleParty': {'type': 'SPONSOR'}}}}