Genetic Analysis of Hereditary Disorders of Hearing and Balance

Study Description

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Brief Summary:

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

Detailed Description:

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.

Study Design

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Study Type :	Observational
Estimated Enrollment :	750 participants
Time Perspective:	Other
Official Title:	Genetic Analysis of Hereditary Disorders of Hearing and Balance
Study Start Date :	August 20, 2001

Groups and Cohorts

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Outcome Measures

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	up to 99 Years (Child, Adult, Senior)
Sexes Eligible for Study:	All
Accepts Healthy Volunteers:	No

Criteria

• INCLUSION CRITERIA:

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

For Nigeria subjects with non-syndromic hearing loss, their hearing loss must be early-onset, before 10 years of age, to be eligible.

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

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Contacts

Contact: Andrew J Griffith, M.D.	(301) 402-2829	griffita@mail.nih.gov

Locations

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike	Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 prpl@cc.nih.gov
Nigeria
Institute of Child Health, College of Medicine, University of Ibadan	Recruiting
Ibadan, Nigeria
Contact: Andrew Griffith, M.D. (301) 496-1960 griffita@mail.nih.gov

Sponsors and Collaborators

National Institute on Deafness and Other Communication Disorders (NIDCD)

Investigators

Principal Investigator:	Andrew J Griffith, M.D.	National Institute on Deafness and Other Communication Disorders (NIDCD)

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Additional Information:

NIH Clinical Center Detailed Web Page 

Publications:

Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics. 1999 Mar;103(3):546-50.

Griffith AJ, Friedman TB. Making sense out of sound. Nat Genet. 1999 Apr;21(4):347-9.

Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16-31. Review.

Responsible Party:	National Institute on Deafness and Other Communication Disorders (NIDCD)
ClinicalTrials.gov Identifier:	NCT00023049 History of Changes
Other Study ID Numbers:	010229; 01-DC-0229
First Posted:	August 22, 2001
Last Update Posted:	April 6, 2018
Last Verified:	August 22, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute on Deafness and Other Communication Disorders (NIDCD) ):

Deafness; Genes; Impairment; Auditory; Vestibular	Hereditary Hearing Disorder; Hearing Impairment; Sensorineural Hearing Loss; Vestibular Dysfunction; SNHL

Additional relevant MeSH terms:

Vestibular Diseases; Disease; Hearing Loss; Deafness; Hearing Loss, Sensorineural; Hearing Disorders; Pathologic Processes	Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Labyrinth Diseases