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Home > "G" Clinical Trials Conditions > Genetic Analysis of Hereditary Disorders of Hearing and Balance  Genetic Analysis of Hereditary Disorders of Hearing and Balance
Genetic Analysis of Hereditary Disorders of Hearing and Balance
For Condition: Hearing Disorder,Sensorineural Hearing Loss,Vestibular Disease
Status: Recruiting
Sponsor(s): National Institute on Deafness and Other Communication Disorders (NIDCD) ,
Synopsis: 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: - Medical and family history, including questions about hearing, balance and other ear-related issues, and review of medical records. - Routine physical examination. - Blood draw or buccal swab (brushing inside the cheek to collect cells) - Tissue is collected for DNA analysis to look for changes in genes that may be related to hearing loss. - Hearing tests - The subject listens for tones emitted through a small earphone. - Balance tests to see if balance functions of the inner ear are associated with the hearing loss - In one test the subject wears goggles and watches moving lights while cold or warm air is blown into the ears. A second test involves sitting in a spinning chair in a quiet, dark room. - Photograph - A photograph may be taken as a record of eye shape and color, distance between the eyes, and hair color. - Computed tomography (CT) and magnetic resonance imaging (MRI) scans - These tests show the structure of the inner ear. For CT, the subject lies still for a short time while X-ray images are obtained. For MRI, the patient lies on a stretcher that is moved into a cylindrical machine with a strong magnetic field. The magnetic field and radio waves produce images of the inner ear. The radio waves cause loud thumping noises that can be muffled by the use of earplugs.
Details: 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:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA Patients with known SNHL and/or peripheral vestibular dysfunction. It is anticipated that, in most cases, patients will be recruited whose disorders do not appear to be syndromic (i.e., are not associated with extra-auditory or extra-vestibular features). Patients segregating abnormal auditory or vestibular phenotypes associated with novel syndromic phenotypes, or syndromes in which the causative gene has not been identified, will be eligible for this study. Children will be included when they are affected with the mutant phenotype or, based upon pedigree analysis, they may not be unaffected but are genetically informative and contributory for linkage mapping and identification of the mutated gene segregating in their family. EXCLUSION CRITERIA Patients who have hearing or 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.
Total Enrollment: 750
Location and Contact Information:
National Institute on Deafness and Other Communication Disorders (NIDCD) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 010229; 01-DC-0229
Study Start Date: August 17, 2001
Record last reviewed: January 14, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00023049
Other Vestibular Disease Studies:
1. Genetic Analysis of Hereditary Disorders of Hearing and Balance
Related Studies:
Other Vestibular Disease Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Genetic Analysis of Hereditary Disorders of Hearing and Balance
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