Ignite Creation Date:
2025-12-24 @ 6:58 PM
Ignite Modification Date:
2026-01-02 @ 9:20 AM
Study NCT ID:
NCT05946057
Status:
RECRUITING
Last Update Posted:
2025-05-28
First Post:
2023-06-05
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Otoferlin Patient Registry and Natural History Study
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D034381', 'term': 'Hearing Loss'}], 'ancestors': [{'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': 'D001299', 'term': 'Audiometry'}], 'ancestors': [{'id': 'D006320', 'term': 'Hearing Tests'}, {'id': 'D003939', 'term': 'Diagnostic Techniques, Otological'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}]}}, 'documentSection': {'largeDocumentModule': {'largeDocs': [{'date': '2025-05-17', 'size': 197675, 'label': 'Study Protocol: Study Protocol: Study Information English', 'hasIcf': False, 'hasSap': False, 'filename': 'Prot_002.pdf', 'typeAbbrev': 'Prot', 'uploadDate': '2025-05-17T03:17', 'hasProtocol': True}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'CASE_ONLY'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 100}, 'targetDuration': '25 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-02-21', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-05', 'completionDateStruct': {'date': '2048-02-21', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-05-21', 'studyFirstSubmitDate': '2023-06-05', 'studyFirstSubmitQcDate': '2023-07-06', 'lastUpdatePostDateStruct': {'date': '2025-05-28', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-07-14', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2048-02-21', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Pure-tone audiometry', 'timeFrame': '1 year, year 1, according to participant consent', 'description': 'Audiological characteristics'}, {'measure': 'Speech audiometry', 'timeFrame': '1 year, year 1, according to participant consent', 'description': 'Audiological characteristics'}], 'secondaryOutcomes': [{'measure': 'Otoacoustic emission thresholds', 'timeFrame': '1 year, year 1, according to participant consent', 'description': 'Electrophysiological characteristics'}, {'measure': 'Auditory brainstem response', 'timeFrame': '1 year, year 1, according to participant consent', 'description': 'Electrophysiological characteristics'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Otoferlin patient registry', 'Natural history study'], 'conditions': ['Otoferlin-related Auditory Synaptopathy', 'Hearing Impairment']}, 'referencesModule': {'references': [{'pmid': '38825639', 'type': 'RESULT', 'citation': 'Vona B, Wollnik B, Strenzke N, Moser T. Catching up but still miles behind-a patient registry for otoferlin. Exp Mol Med. 2024 Jun;56(6):1472-1473. doi: 10.1038/s12276-024-01247-6. Epub 2024 Jun 3. No abstract available.'}], 'seeAlsoLinks': [{'url': 'http://www.auditory-neuroscience.uni-goettingen.de/otoferlin_registry.html', 'label': 'Registry website in German'}, {'url': 'http://www.auditory-neuroscience.uni-goettingen.de/otoferlin_registry_en.html', 'label': 'Registry website in English'}]}, 'descriptionModule': {'briefSummary': 'This registry is designed to collect comprehensive information about the molecular genetic diagnoses of individuals with otoferlin-associated hearing impairment and clinical information to support a natural history study.', 'detailedDescription': 'A patient registry, in both German and English languages, has been established for patients with hereditary hearing impairment due to variants in otoferlin (OTOF). The study is conducted in accordance with the current version of the Declaration of Helsinki. The study protocol and database structure have been approved by the Ethics Committee of the University Medical Center Göttingen.\n\nMain objective criterion:\n\nTo increase understanding of natural history, types of genetic variants and to facilitate clinical and basic research on otoferlin-associated hearing impairment.\n\nSecondary objective criterion:\n\nTo improve knowledge to better characterize individuals with otoferlin-associated hearing impairment in the long term and create prerequisites for improved, patient tailored therapy and care.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Individuals with hearing impairment who have a molecular geneic diagnosis involving otoferlin', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* A molecular genetic diagnosis involving biallelic variants in otoferlin (OTOF) and audiometry\n\nExclusion Criteria:\n\n* Patients with evidence of non-OTOF molecular genetic diagnoses'}, 'identificationModule': {'nctId': 'NCT05946057', 'briefTitle': 'Otoferlin Patient Registry and Natural History Study', 'organization': {'class': 'OTHER', 'fullName': 'University Medical Center Goettingen'}, 'officialTitle': 'Patient Registry for Individuals With Otoferlin-Associated Hearing Loss', 'orgStudyIdInfo': {'id': '17/8/22 v1.1 - 2023-02528'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Otoferlin participant group', 'description': 'Individuals with hearing impairment who have a molecular genetic diagnosis involving otoferlin', 'interventionNames': ['Diagnostic Test: Molecular genetic testing and audiometry']}], 'interventions': [{'name': 'Molecular genetic testing and audiometry', 'type': 'DIAGNOSTIC_TEST', 'description': 'Genetic testing and audiometry are the interventions of interest', 'armGroupLabels': ['Otoferlin participant group']}]}, 'contactsLocationsModule': {'locations': [{'zip': '37075', 'city': 'Goettigen', 'state': 'Lower Saxony', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Barbara Vona, PhD', 'role': 'CONTACT', 'email': 'barbara.vona@med.uni-goettingen.de', 'phone': '+49-551-38-51337'}, {'name': 'Tobias Moser, MD', 'role': 'CONTACT', 'email': 'tmoser@gwdg.de', 'phone': '+49-551-39-63070'}, {'name': 'Tobias Moser, MD', 'role': 'PRINCIPAL_INVESTIGATOR'}, {'name': 'Bernd Wollnik, MD', 'role': 'SUB_INVESTIGATOR'}, {'name': 'Nicola Strenzke, MD', 'role': 'SUB_INVESTIGATOR'}, {'name': 'Barbara Vona, PhD', 'role': 'SUB_INVESTIGATOR'}], 'facility': 'University Medical Center Goettingen'}], 'centralContacts': [{'name': 'Barbara Vona, PhD', 'role': 'CONTACT', 'email': 'barbara.vona@med.uni-goettingen.de', 'phone': '+49-551-38-51337'}, {'name': 'Tobias Moser, MD', 'role': 'CONTACT', 'email': 'tmoser@gwdg.de', 'phone': '+49-551-39-63070'}], 'overallOfficials': [{'name': 'Tobias Moser, MD', 'role': 'STUDY_DIRECTOR', 'affiliation': 'University Medical Center Goettingen'}, {'name': 'Bernd Wollnik, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Medical Center Goettingen'}, {'name': 'Nicola Strenzke, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Medical Center Goettingen'}, {'name': 'Barbara Vona, PhD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'University Medical Center Goettingen'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'Pseudonymized data will be published in publications'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Tobias Moser', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR_INVESTIGATOR', 'investigatorTitle': 'Prof.', 'investigatorFullName': 'Tobias Moser', 'investigatorAffiliation': 'University Medical Center Goettingen'}}}}