Hereditary hearing loss
Conditions
Interventions
Hearing loss participant group:None
Sponsors
Eye & ENT Hospital of Fudan University
Eligibility
Sex/Gender
All
Age
No minimum to 60 Years
Inclusion criteria
Inclusion criteria: 1.The subject and/or their legal guardian(s) must provide informed consent for the study prior to any study procedures, voluntarily sign the written informed consent form, and be willing to comply with the follow-up visits as scheduled by the protocol; 2.The subject (with assistance from their guardian if necessary) must be able to communicate effectively with the investigator and adhere to the study requirements. For young children without mature language skills, they must be able to cooperate with the investigator's requirements with the assistance of their guardian; 3. Age <= 60 years, male or female; 4. Documented diagnosis of hearing loss associated with pathogenic variants in one of the following genes: GJB2, SLC26A4, OTOF, MPZL2, USH2A, or the mitochondrial gene MT-RNR1, as confirmed by a genetic test report; 5. Audiological inclusion criterion: A hearing threshold level greater than 20dB as determined by Auditory Brainstem Response (ABR) and/or PureTone Audiometry (PTA).
Exclusion criteria
Exclusion criteria: 1. No deafness-associated gene mutations were detected by genetic testing; 2. Presence of hearing loss caused by malformations of the external or middle ear; 3. Presence of a history of traumatic brain injury or hearing loss resulting from it; 4. A clear association exists between hearing loss and a history of hyperpyrexia (high fever); 5. Presence of central nervous system disorders or intellectual impairment that may compromise the validity of the assessments; 6. Any other condition(s) for which the investigator deems the subject unsuitable for participation in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Imaging test;Assessment of hearing loss;Genetic testing; | — |
Secondary
| Measure | Time frame |
|---|---|
| Auditory and Speech Tests;Vestibular Function Tests;Clinical Developmental Scale;Hearing-Related Quality of Life Assessment;Ophthalmic Examinations; | — |
Countries
China
Contacts
Public ContactYilai Shu
Eye & ENT Hospital of Fudan University
Outcome results
None listed