Ignite Creation Date:
2025-12-25 @ 3:27 AM
Ignite Modification Date:
2025-12-26 @ 2:07 AM
Study NCT ID:
NCT04934605
Status:
UNKNOWN
Last Update Posted:
2021-06-22
First Post:
2021-06-10
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D006319', 'term': 'Hearing Loss, Sensorineural'}, {'id': 'C566366', 'term': 'Deafness, Autosomal Recessive 4'}], 'ancestors': [{'id': 'D034381', 'term': 'Hearing Loss'}, {'id': 'D006311', 'term': 'Hearing Disorders'}, {'id': 'D004427', 'term': 'Ear Diseases'}, {'id': 'D010038', 'term': 'Otorhinolaryngologic Diseases'}, {'id': 'D012678', 'term': 'Sensation Disorders'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D012816', 'term': 'Signs and Symptoms'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D019929', 'term': 'Cochlear Implantation'}], 'ancestors': [{'id': 'D013506', 'term': 'Otologic Surgical Procedures'}, {'id': 'D013517', 'term': 'Otorhinolaryngologic Surgical Procedures'}, {'id': 'D013514', 'term': 'Surgical Procedures, Operative'}, {'id': 'D019919', 'term': 'Prosthesis Implantation'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'RETROSPECTIVE', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 60}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'ACTIVE_NOT_RECRUITING', 'startDateStruct': {'date': '2010-05-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-04', 'completionDateStruct': {'date': '2021-07-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2021-06-21', 'studyFirstSubmitDate': '2021-06-10', 'studyFirstSubmitQcDate': '2021-06-21', 'lastUpdatePostDateStruct': {'date': '2021-06-22', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-06-22', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-05-01', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Cochlear implant age', 'timeFrame': 'Immediately after cochlear implantation', 'description': 'Age of cochlear implantation.'}, {'measure': 'Duration of hearing loss', 'timeFrame': 'Immediately after cochlear implantation', 'description': 'Time between found of hearing loss and cochlear implantation.'}], 'secondaryOutcomes': [{'measure': 'Type of initial hearing loss', 'timeFrame': 'On the 1 day of recruitment.', 'description': 'Prelingual or postlingual; Hearing aid can or cannot benefit'}, {'measure': 'Type of hearing loss progression', 'timeFrame': 'Immediately after cochlear implantation', 'description': 'Initial profound, sudden, or fluctuating hearing loss.'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['enlarged vestibular aqueduct', 'SLC26A4', 'cochlear implant'], 'conditions': ['Sensorineural Hearing Loss', 'Enlarged Vestibular Aqueduct']}, 'descriptionModule': {'briefSummary': 'To explore the genotype-phenotype correlation of SLC26A4 mutations in cochlear-implanted patients with enlarged vestibular aqueduct.', 'detailedDescription': 'Enlarged vestibular aqueduct (EVA) is one of the most common forms of inner ear malformation that cause sensorineural hearing loss (SNHL). Some patients with EVA present delayed, fluctuating, and progressive hearing loss, while the others are with congenital or sudden hearing loss. Cochlear implants (CI) have been widely used in patients with severe-profound SNHL. However, it is difficult to define the optimal timing of CI operations for patients with EVA. Mutations in SLC26A4 are known to be responsible for EVA. This study is to explore the genotype-phenotype correlation of SLC26A4 mutations in cochlear-implanted patients with EVA.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '0 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Subjects with sensorineural hearing loss and enlarged vestibular aqueduct.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n1. Bilateral severe-to-profound sensorineural hearing loss who received cochlear implantation.\n2. Bilateral or unilateral enlarged vestibular aqueduct (EVA) with or without Mondini malformation (IP-II) on temporal bone computed tomography (CT) and/or magnetic resonance imaging (MRI).\n\nExclusion Criteria:\n\n1. Hearing loss that is associated with symptoms which meet the criteria of already known syndromes.\n2. With other type of inner ear malformation.'}, 'identificationModule': {'nctId': 'NCT04934605', 'briefTitle': 'Genotype-phenotype Correlation of SLC26A4 in CI Patients With EVA', 'organization': {'class': 'OTHER', 'fullName': 'Second Affiliated Hospital, School of Medicine, Zhejiang University'}, 'officialTitle': 'A Genotype-phenotype Correlation of SLC26A4 Mutations in Cochlear-implanted Patients With Enlarged Vestibular Aqueduct', 'orgStudyIdInfo': {'id': '2013-007'}}, 'armsInterventionsModule': {'interventions': [{'name': 'Cochlear implantation', 'type': 'PROCEDURE', 'description': 'Cochlear implantation'}]}, 'contactsLocationsModule': {'overallOfficials': [{'name': 'Xiao Liu, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Department of Otorhinolaryngology, 2nd Affiliated Hospital, School of Medicine, Zhejiang University'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Second Affiliated Hospital, School of Medicine, Zhejiang University', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}