Viewing Study NCT00382369


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Study NCT ID: NCT00382369
Status: COMPLETED
Last Update Posted: 2017-02-27
First Post: 2006-09-28
Is NOT Gene Therapy: False
Has Adverse Events: False

Brief Title: Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis
Sponsor:
Organization:

Raw JSON

{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D014826', 'term': 'Vocal Cord Paralysis'}], 'ancestors': [{'id': 'D007818', 'term': 'Laryngeal Diseases'}, {'id': 'D012140', 'term': 'Respiratory Tract Diseases'}, {'id': 'D010038', 'term': 'Otorhinolaryngologic Diseases'}, {'id': 'D020421', 'term': 'Vagus Nerve Diseases'}, {'id': 'D003389', 'term': 'Cranial Nerve Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D010243', 'term': 'Paralysis'}, {'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': 'DNA prepared from blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'FAMILY_BASED'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 11}}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2008-06-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2017-02', 'completionDateStruct': {'date': '2008-12-29', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2017-02-23', 'studyFirstSubmitDate': '2006-09-28', 'studyFirstSubmitQcDate': '2006-09-28', 'lastUpdatePostDateStruct': {'date': '2017-02-27', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2006-09-29', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2008-11-17', 'type': 'ACTUAL'}}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['familial vocal cord paralysis', 'genetic screening'], 'conditions': ['Vocal Cord Paralysis']}, 'referencesModule': {'references': [{'pmid': '11493198', 'type': 'BACKGROUND', 'citation': 'Manaligod JM, Skaggs J, Smith RJ. Localization of the gene for familial laryngeal abductor paralysis to chromosome 6q16. Arch Otolaryngol Head Neck Surg. 2001 Aug;127(8):913-7. doi: 10.1001/archotol.127.8.913.'}]}, 'descriptionModule': {'briefSummary': 'Vocal cord paralysis is a common cause of congenital stridor and airway obstruction. In this study we plan to identify the genetic locus of the genes in two extended families who suffer of the disease.', 'detailedDescription': 'In a number of families suffering of familial vocal cord paralysis it has previously been shown that the disease is inherited autosomal dominant. In one of the families the gene coding for the disease was located on chromosome 6q16. We will be analyzing 2 extended families with familial vocal cord paralysis to define their genetic defect leading to the disease. All family members will undergo a laryngoscopy to determine the extent of paralysis. For all family members we will isolate DNA and determine their microsatellite polymorphism on chromosome 6q16. If the results are negative we will continue the study and perform a whole genome scan to localize the gene(s) involved.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '10 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Families suffering of familial vocal cord paralysis', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* members of families suffering of familial vocal cord paralysis\n\nExclusion Criteria:\n\n* none'}, 'identificationModule': {'nctId': 'NCT00382369', 'briefTitle': 'Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis', 'organization': {'class': 'OTHER', 'fullName': 'Hadassah Medical Organization'}, 'officialTitle': 'Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis', 'orgStudyIdInfo': {'id': 'VOCALCORD-HMO-CTIL'}}, 'contactsLocationsModule': {'locations': [{'zip': '24035', 'city': 'Jerusalem', 'country': 'Israel', 'facility': 'Hadassah-Hebrew University Medical Center, Mt Scopus', 'geoPoint': {'lat': 31.76904, 'lon': 35.21633}}], 'overallOfficials': [{'name': 'Eitan Kerem, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'Hadassah MO'}, {'name': 'Batsheva Kerem, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Hebrew University Jerusalem'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Hadassah Medical Organization', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Professor', 'investigatorFullName': 'Kerem Eithan', 'investigatorAffiliation': 'Hadassah Medical Organization'}}}}