Genetic Analysis of Hereditary Disorders of Hearing and Balance
Sponsor: National Institute on Deafness and Other Communication Disorders (NIDCD)
This observational or N/A phase trial investigates Hearing Disorder and Sensorineural Hearing Loss and is currently completed. National Institute on Deafness and Other Communication Disorders (NIDCD) leads this study, which shows 75 recorded versions since 2002 — indicating substantial longitudinal coverage. The change history captured here reflects the iterative nature of clinical trial conduct.
Study Description(click to expand)Hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by mutations in any one of hundreds of different genes. Approximately 120 genes have now been identified in which mutations can cause nonsyndromic sensorineural hearing loss. The identification and analysis of these genes and their mutations are providing critical insights into the development, structure, and function of the auditory system, as well as the molecular mechanisms associated with disruption of these processes. In contrast, the molecular mechanisms underlying familial disorders affecting peripheral vestibular function appear to be more rare, have not been well described, and are less well understood. The peripheral auditory and vestibular systems share many common features in both health and disease, and many hereditary hearing loss disorders also affect vestibular function. The purpose of this study is to identify genes and mutations causing hereditary disorders of hearing, balance, or both. Members of families segregating hereditary disorders of hearing or balance will be enrolled in the proposed study in order to: (1) define and characterize the phenotypes and natural histories; (2) identify the underlying causative mutations and genes by linkage, positional cloning, and/or candidate gene mutation analyses; (3) and correlate observed phenotypes with the corresponding mutations...
Hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by mutations in any one of hundreds of different genes. Approximately 120 genes have now been identified in which mutations can cause nonsyndromic sensorineural hearing loss. The identification and analysis of these genes and their mutations are providing critical insights into the development, structure, and function of the auditory system, as well as the molecular mechanisms associated with disruption of these processes. In contrast, the molecular mechanisms underlying familial disorders affecting peripheral vestibular function appear to be more rare, have not been well described, and are less well understood. The peripheral auditory and vestibular systems share many common features in both health and disease, and many hereditary hearing loss disorders also affect vestibular function. The purpose of this study is to identify genes and mutations causing hereditary disorders of hearing, balance, or both. Members of families segregating hereditary disorders of hearing or balance will be enrolled in the proposed study in order to: (1) define and characterize the phenotypes and natural histories; (2) identify the underlying causative mutations and genes by linkage, positional cloning, and/or candidate gene mutation analyses; (3) and correlate observed phenotypes with the corresponding mutations and functions of the underlying genes.
Status Flow
Change History
75 versions recorded-
Mar 2026 — Present [monthly]
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First recorded
Dec 2002
Trial started
Per CT.gov start date — pre-dates our first snapshot
Eligibility Summary
No eligibility information available.
Contact Information
- National Institute on Deafness and Other Communication Disorders (NIDCD)
For direct contact, visit the study record on ClinicalTrials.gov .