NIH Clinical Center Search the Studies: Study Number, Study Title

Protocol Details

Genetic Analysis of Hereditary Disorders of Hearing and Balance

This study is NOT currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Institute on Deafness and Other Communication Disorders (NIDCD)

Recruitment Detail

Type: Completed Study; data analyses ongoing
Gender: Male & Female
Min Age: 0
Max Age: 99

Referral Letter Required


Population Exclusion(s)



Natural History Study;
DNA Mutations;
Natural History

Recruitment Keyword(s)

Hereditary Hearing Disorder;
Hearing Impairment;
Sensorineural Hearing Loss;
Vestibular Dysfunction;


Sensorineural Hearing Loss;
Hearing Disorder;
Vestibular Disease

Investigational Drug(s)


Investigational Device(s)




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.

--Back to Top--



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.


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.

--Back to Top--


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

--Back to Top--


Principal Investigator

Referral Contact

For more information:

Thomas B. Friedman, Ph.D.
National Institute on Deafness and Other Communication Disorders (NIDCD)
National Institutes of Health
5RC-Room 2A19
5 Research Court
Rockville, MD 20852
(301) 496-7882

Anna E. Clements Centeno
National Institute on Deafness and Other Communication Disorders (NIDCD)
National Institutes of Health
Building 10
Room 4-2750
10 Center Drive
Bethesda, Maryland 20892
(301) 451-1215

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


--Back to Top--