[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"dfnb9\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:dfnb9":29},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,45,73],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100470205","natural-history-in-children-up-to-16-years-with-mild-to-profound-hearing-loss-due-to-mutations-in-gjb2--otof-genes-100470205",false,"NCT05402813","Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 \u002F OTOF Genes","Longitudinal Study of the Natural History of Two Autosomal Recessive Non Syndromic Deafness (DFNB1A and DFNB9) in Children up to 16 Years of Age","Otoconex","Main Inclusion Criteria:\n\nParticipants meeting all the following main inclusion criteria will be eligible to participate in the study:\n\n* Aged ≤ 16 years on the date of signed informed consent for cohort 1 and ≤ 10 years for cohort 2;\n* With a diagnosis of non-syndromic, bilateral, mild to profound, sensorineural hearing loss (according to the American Speech Language-Hearing Association);\n* With documented genotyping results showing mutation(s) in GJB2 or OTOF genes;\n* Written informed consent as required by local regulations.\n* Either without Cochlear Implant, or with unilateral or bilateral Cochlear Implant(s)\n\nExclusion Criteria:\n\nParticipants presenting with any of the following main exclusion criteria will not be included in the study\n\n* Other type of deafness, such as unilateral deafness, persistent conductive deafness, malformation syndrome, syndromic deafness, known familial deafness linked to mutations in other genes than OTOF or GJB2;\n* Documented genotyping results showing pathogenic mutation(s) in other gene(s) than GJB2 or OTOF genes in the tested panel;\n* Unable and\u002For unwilling to comply with all the protocol requirements and\u002For study procedures.","ALL","16 Years",{"count":20,"type":21},180,"ESTIMATED","OBSERVATIONAL","The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.",[25,26,27,28,29,30,31],"Sensorineural Hearing Loss, Bilateral","AUNB1","DFNB1A","Congenital Deafness","DFNB9","OTOF Gene Mutation","GJB2 Gene Mutation","RECRUITING","2026-05-28",{"date":35,"type":36},"2026-06-01","ACTUAL",{"date":38,"type":36},"2022-11-18",{"date":40,"type":21},"2031-06",{"name":42,"class":43},"Sensorion","INDUSTRY",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":11,"sex":17,"minAge":52,"maxAge":4,"enrollmentInfo":53,"targetDuration":4,"studyType":55,"phases":56,"briefSummary":58,"conditions":59,"keywords":4,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":72},"100571585","a-study-of-eh002-gene-therapy-for-otoferlin-gene-mutation-mediated-hearing-loss-100571585","NCT06722170","A Study of EH002 Gene Therapy for Otoferlin Gene Mutation-mediated Hearing Loss","A Study on the Safety, Tolerability, and Preliminary Efficacy of EH002 in the Treatment of DFNB9 Congenital Deafness","Inclusion Criteria:\n\n1. The participant and\u002For their legal guardian must provide informed consent before the study, voluntarily sign the written informed consent form, and be willing to attend follow-up visits as scheduled by the study.\n2. The participant must communicate effectively with the investigator and comply with the investigator's requirements, with the assistance of a legal guardian if necessary. Young children without mature language skills must be able to cooperate and comply with the investigator's requirements with the help of a legal guardian.\n3. The participant and\u002For legal guardian must understand the study correctly and have appropriate expectations regarding the potential benefits.\n4. The participant must be at least 6 months old, with no restrictions on gender.\n5. The participant must be diagnosed with DFNB9 congenital deafness, confirmed by genetic testing showing homozygous or compound heterozygous mutations in the OTOF gene.\n6. Audiological inclusion criteria: Severe or profound hearing loss (≥65 dB).\n7. The participant must meet the surgical requirements, including the absence of middle- or inner-ear malformations, vestibulocochlear nerve developmental abnormalities, and ear inflammation, as confirmed by CT or MRI scans within 3 months or at the time of screening. Additionally, the participant must be deemed eligible for surgery.\n\nExclusion Criteria:\n\n1. The genetic diagnosis does not indicate an OTOF mutation.\n2. Other types of deafness that are unsuitable for otological surgery, such as middle- or inner-ear developmental abnormalities or malformations, vestibulocochlear nerve abnormalities, conductive hearing loss, mixed hearing loss, or malformation syndromes, as detected by CT or MRI scans within 3 months.\n3. Pre-existing otological conditions that would interfere with the planned surgery or the interpretation of study endpoints, such as acute or chronic otitis media, Meniere's disease, acoustic neuroma, or unrecovered sudden sensorineural hearing loss.\n4. A history of substance abuse, or treatment with any known ototoxic drugs (e.g., aminoglycosides, cisplatin, loop diuretics) within the last 6 months, or antiviral medications or immunotherapy within the last 3 months, or vaccination within the last month.\n5. Individuals with compromised immunity or a history of immunodeficiency, including HIV-positive status, other acquired or congenital immunodeficiency disorders, or a history of organ transplantation.\n6. Patients with severe systemic diseases or severe acute illnesses, such as tuberculosis, active hepatitis B or C infection, active herpes zoster infection, pancreatitis, renal insufficiency, or gastrointestinal ulcers.\n7. Patients with surgical or anesthetic contraindications as determined by the surgeon, anesthesiologist, or designated personnel. This includes those who have had a cardiovascular or cerebrovascular event within the last 6 months, such as myocardial infarction, heart failure, angina, stroke, transient ischemic attack, or any other cardiac condition deemed unsuitable by the investigator or an allergy to any planned medications.\n8. Currently participating in or planning to participate in any interventional clinical trial involving drugs or devices within the next year or having received the last dose of another clinical trial within 5 half-lives.\n9. Presence of an implant in the ear (on the side intended for surgery) at the time of screening, such as a cochlear implant.\n10. Neutralizing antibody titer against AAV1 \\>1:2000.\n11. Presence of other severe congenital disorders.\n12. A history of definite neurological or psychiatric disorders, including epilepsy or dementia.\n13. Patients requiring long-term anticoagulant therapy that cannot be temporarily discontinued.\n14. A history of chemotherapy or radiation therapy.\n15. Any other condition that, in the opinion of the investigator, makes the participant unsuitable for this clinical study.","6 Months",{"count":54,"type":21},24,"INTERVENTIONAL",[57],"NA","The study is designed to evaluate the safety, tolerability, and preliminary efficacy of EH002 for the treatment of congenital deafness caused by mutations in the OTOF gene. Participants may receive one or two injections of the EH002 gene therapy in one or both ears.",[29,60,61],"Congenital Hearing Loss","Hearing Loss, Sensorineural","2025-07-22",{"date":64,"type":36},"2025-07-25",{"date":66,"type":36},"2024-11-22",{"date":68,"type":21},"2029-11",{"name":70,"class":71},"Yilai Shu","OTHER",2,{"id":74,"slug":75,"hasResults":11,"nctId":76,"briefTitle":77,"officialTitle":78,"acronym":79,"eligibilityCriteria":80,"healthyVolunteers":11,"sex":17,"minAge":52,"maxAge":81,"enrollmentInfo":82,"targetDuration":4,"studyType":55,"phases":84,"briefSummary":87,"conditions":88,"keywords":93,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"locationsCount":72},"100544551","phase-1-a-phase-iii-clinical-trial-with-sens-501-in-children-suffering-from-severe-to-profound-hearing-loss-due-to-otoferlin-otof-mutations-100544551","NCT06370351","A Phase I\u002FII Clinical Trial with SENS-501 in Children Suffering from Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations","A Phase I\u002FII, Open-ended, Adaptative, Open Label Dose Escalation and Expansion Clinical Trial to Evaluate the Efficacy and Safety of Unilateral Intracochlear Injection of SENS-501 Using an Injection System in Children with Severe to Profound Hearing Loss Due to Otoferlin Gene Mutations","AUDIOGENE","Inclusion Criteria:\n\n* Children (male or female) ≥ 6 to ≤ 31 months at the time of inclusion\n* Severe to profound hearing loss assessed by auditory brainstem response (ABR)\n* Biallelic mutation in the Otoferlin gene\n* Presence of Otoacoustic emissions (OAEs)\n* Documented normal cochlea and internal auditory canals\n* Patients with intact vestibular function\n\nExclusion Criteria:\n\n* History of chronic, acute, or major disease, or unspecified reasons, that in the opinion of the Investigator, makes the participant unsuitable for participation in the study or constitutes an unacceptable risk.\n* Have been dosed in a previous gene therapy clinical trial\n* Patients with a prior or current cochlear implant\n* Any contraindication to the surgery determined by the surgeon or anesthesia determined by the anesthesiologist, or designee, or history of therapy known as ototoxic (e.g., cisplatin, high dose and long treatment with aminoglycosides, etc.) for an extended period (more than 2 weeks).\n* Participation in any other interventional clinical trial\n* Any other condition that, in the opinion of the Investigator, may compromise the safety or compliance of the participant or would preclude the participant from successful completion of the study or might interfere with the evaluation of study treatment\n* Anticipated noncompliance with the protocol requirements","31 Months",{"count":83,"type":21},12,[85,86],"PHASE1","PHASE2","This study intends to assess safety, tolerability, and efficacy of SENS-501 in children between the ages of 6-31 months with pre-lingual hearing loss due to a mutation in the Otoferlin gene.",[30,29,28,89,90,91,92,61],"Hearing Disorders","Ear Diseases","Otorhinolaryngologic Diseases","Deafness",[30,94,92,95,79,96,29,97,98,99,100,101],"Hearing impairment","otoferlin","Hearing Loss","Hearing disorder","Cochlear implant","SENS-501","Congenital Hearing loss","Gene therapy","2024-09-23",{"date":104,"type":36},"2024-09-26",{"date":106,"type":36},"2024-06-21",{"date":108,"type":21},"2031-07",{"name":42,"class":43}]