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Protocol Details

Genetic Analysis of hereditary Disorders of hearing and Balance

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

01-DC-0229

Sponsoring Institute

National Institute on Deafness and Other Communication Disorders (NIDCD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 0
Max Age: 99

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Deafness;
Genes;
Impairment;
Auditory;
Vestibular

Recruitment Keyword(s)

hereditary hearing Disorder;
hearing Impairment;
Sensorineural hearing loss;
Vestibular Dysfunction;
SNHL

Condition(s)

Sensorineural hearing loss;
hearing Disorder;
Vestibular Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute on Deafness and Other Communication Disorders

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.

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Eligibility

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.


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Citations:

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

Making sense out of sound

Genetic epidemiology of hearing impairment

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Contacts:

Principal Investigator

Referral Contact

For more information:

Andrew J. Griffith, M.D.
National Institute on Deafness and Other Communication Disorders (NIDCD)
BG 35A RM GF103
35A CONVENT DR
BETHESDA MD 20892
(301) 402-2829
griffita@mail.nih.gov

Julie Muskett
National Institute on Deafness and Other Communication Disorders (NIDCD)
National Institutes of Health
Building 35A
Room 1F233
35A Convent Drive
Bethesda, Maryland 20892
(301) 435-1574
muskettj@mail.nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00023049

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