Genetic Analysis of Hereditary Disorders of Hearing and Balance
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|ClinicalTrials.gov Identifier: NCT00023049|
Recruitment Status : Completed
First Posted : August 22, 2001
Last Update Posted : October 14, 2021
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.
|Condition or disease|
|Sensorineural Hearing Loss Hearing Disorder Vestibular Disease|
|Study Type :||Observational|
|Actual Enrollment :||335 participants|
|Official Title:||Genetic Analysis of Hereditary Disorders of Hearing and Balance|
|Actual Study Start Date :||December 23, 2002|
patients with known SNHL and/or peripheral vestibular dysfunction
- To define and characterize the phenotypes and natural histories of families with segregating hereditary disorders of balance or hearing and to identify the possible mutations and genes by genetic analysis [ Time Frame: Ongoing ]Characterize the natural history of hereditary disorders affecting hearing and/or balance Identify the genes, including both known and as yet undiscovered genes, that can cause hereditary disorders of hearing or balance Identify and characterize the structure and functions of these genes in the development and function of the peripheral auditory and vestibular systems Determine how mutations in these genes cause hearing loss and vestibular dysfunction Correlate genotypes and phenotypes to identify clinical features that may be used to facilitate the genetic diagnosis of hereditary disorders affecting hearing or balance
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00023049
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Institute of Child Health, College of Medicine, University of Ibadan|
|Principal Investigator:||Thomas B Friedman, Ph.D.||National Institute on Deafness and Other Communication Disorders (NIDCD)|