[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100652934":3},{"organization":4,"armGroups":7,"interventions":13,"overallOfficials":10,"centralContacts":19,"locations":28,"responsibleParty":42,"collaborators":10,"id":45,"slug":46,"hasResults":47,"nctId":48,"briefTitle":49,"officialTitle":49,"acronym":10,"eligibilityCriteria":50,"healthyVolunteers":47,"sex":51,"minAge":10,"maxAge":10,"enrollmentInfo":52,"targetDuration":55,"studyType":56,"phases":10,"briefSummary":57,"conditions":58,"keywords":61,"overallStatus":73,"whyStopped":10,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":78,"completionDateStruct":80,"leadSponsor":82,"locationsCount":83},{"fullName":5,"class":6},"Sohag University","OTHER",[8],{"label":9,"type":10,"description":10,"interventionNames":11},"Patients with auditory neuropathy spectrum disorder",null,[12],"Diagnostic Test: Whole exome sequencing.",[14],{"type":15,"name":16,"description":17,"armGroupLabels":18,"otherNames":10},"DIAGNOSTIC_TEST","Whole exome sequencing.","Whole exome sequencing (WES) will be performed on a biological sample obtained from each eligible participant to analyze the protein-coding regions of the genome. The analysis will specifically assess the OTOF gene for genetic variants associated with auditory neuropathy spectrum disorder (ANSD), while other clinically relevant variants identified through the sequencing may also be documented according to the study protocol. Identified OTOF variants will be classified according to established variant-interpretation criteria.",[9],[20,25],{"name":21,"role":22,"phone":23,"phoneExt":10,"email":24},"Mira Ayman Ramzy","CONTACT","+201273979650","mira_ayman99@yahoo.com",{"name":26,"role":22,"phone":27,"phoneExt":10,"email":10},"Mostafa Ahmed Aly Youssif, Professor","+201001313395",[29],{"facility":30,"status":10,"city":31,"state":32,"zip":33,"country":34,"countryCode":35,"cosmosGeoPoint":36,"geoPoint":41,"contacts":10},"Faculty of medicine, Sohag University","Sohag","Sohag Governorate","82511","Egypt","EG",{"type":37,"coordinates":38},"Point",[39,40],31.69478,26.55695,{"lat":40,"lon":39},{"type":43,"investigatorFullName":21,"investigatorTitle":44,"investigatorAffiliation":5,"oldNameTitle":10,"oldOrganization":10},"PRINCIPAL_INVESTIGATOR","Audio-vestibular medicine resident doctor","100652934","genetic-study-of-otof--related-auditory-neuropathy-spectrum-disorder-100652934",false,"NCT07778641","Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder","Inclusion Criteria:\n\n1. The study will be including 30 subjects of 30 patients of both sexes of any age with congenital hearing loss and confirmed diagnosis of non-syndromic ANSD:\n\n   A) Disproportionate speech discrimination score (SDS) with the hearing threshold level.\n\n   B)The auditory brainstem response (ABR) test with no waveform, disturbed waves, nor detectable wave V at high intense stimulus.\n\n   C) The otoacoustic emission (OAE) and\u002For cochlear microphonic (CM) potential may be present.\n2. Informed consent.\n\nExclusion Criteria:\n\n* 1\\) Known acquired risk factors of ANSD as preterm, hypoxia, hyperbilirubinemia. 2) Conductive hearing loss. 3) Syndromic ANSD hearing loss. 3) Binaural cochlear implants. 4) Inner ear malformation, cochlear nerve aplasia or hypoplasia.","ALL",{"count":53,"type":54},30,"ESTIMATED","3 Months","OBSERVATIONAL","The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD). The primary research question is whether patients with ANSD carry a pathogenic or likely pathogenic OTOF gene variant. Participants will undergo genetic analysis of the OTOF gene.",[59,60],"Auditory Neuropathy Spectrum Disorder","Auditory Neuropathy",[62,63,64,65,66,67,68,69,70,71,72],"Otoferlin","Auditory neuropathy spectrum disorder","ANSD","Auditory synaptopathy","Genetic Testing","Whole Exome Sequencing","OTOF mutation","Hereditary hearing loss","Molecular testing","OTOF","OTOF Variants","NOT_YET_RECRUITING","2026-08-18",{"date":76,"type":77},"2026-08-21","ACTUAL",{"date":79,"type":54},"2026-08",{"date":81,"type":54},"2027-02",{"name":5,"class":6},1]