|
Home
Search
Study Topics
Glossary
|
![]() |
![]() |
|
![]() |
|
![]() |
|
![]() |
![]() |
![]() |
|
![]() |
![]() |
||||||||||||||||||||||||||||||||||||
| Sponsor: | National Institute on Deafness and Other Communication Disorders (NIDCD) |
|---|---|
| Information provided by: | National Institutes of Health Clinical Center (CC) |
| ClinicalTrials.gov Identifier: | NCT00023049 |
Purpose
This study will try to identify the genetic causes of hereditary hearing loss or balance disorders.
People with a hearing or balance disorder that affects more than one family member may be eligible for this study. They and their immediate family members may undergo some or all of the following procedures:
| Condition |
|---|
|
Sensorineural Hearing Loss Hearing Disorder Vestibular Disease |
| Study Type: | Observational |
| Official Title: | Genetic Analysis of Hereditary Disorders of Hearing and Balance |
| Estimated Enrollment: | 750 |
| Study Start Date: | August 2001 |
Hereditary hearing impairment is a genetically heterogeneous disorder that can be caused by mutations in any one of hundreds of different genes. Approximately 20 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.
Eligibility| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
Persons with known SNHL and/or peripheral vestibular dysfunctions caused by genetic etiology
Family members of persons with known SNHL and/or peripheral vestibular dysfunction caused by genetic etiology
Adults must be able to provide informed consent
Minors must have a parent or guardian able to provide informed consent
Subjects must be 0-99 years of age
EXCLUSION CRITERIA:
Persons with SNHL and/or peripheral vestibular dysfunction caused by a nongenetic etiology such as trauma, infection, metabolic or immunologic disorders, or exposure to ototoxic agents such as noise or aminoglycoside antibiotics will not be included in this protocol.
Contacts and Locations| Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
| Contact: TTY | 1-866-411-1010 |
| United States, Maryland | |
| National Institutes of Health Clinical Center, 9000 Rockville Pike | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Sub-Investigator: Patient Recruitment and Public Liaison Office (PRPL) For more information at the NIH Clinical Center contact | |
More Information
| ClinicalTrials.gov Identifier: | NCT00023049 History of Changes |
| Other Study ID Numbers: | 010229, 01-DC-0229 |
| Study First Received: | August 21, 2001 |
| Last Updated: | December 31, 2011 |
| Health Authority: | United States: Federal Government |
|
Deafness Genes Impairment Auditory Vestibular |
Hereditary Hearing Disorder Hearing Impairment Sensorineural Hearing Loss Vestibular Dysfunction SNHL |
|
Hearing Loss Deafness Hearing Loss, Sensorineural Genetic Diseases, Inborn Vestibular Diseases Hearing Disorders Ear Diseases |
Otorhinolaryngologic Diseases Sensation Disorders Neurologic Manifestations Nervous System Diseases Signs and Symptoms Labyrinth Diseases |