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

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 120 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.

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Study Type : Observational
Actual Enrollment : 335 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Genetic Analysis of Hereditary Disorders of Hearing and Balance
Actual Study Start Date : December 23, 2002

Resource links provided by the National Library of Medicine


Group/Cohort
1
patients with known SNHL and/or peripheral vestibular dysfunction



Primary Outcome Measures :
  1. 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



Information from the National Library of Medicine

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Ages Eligible for Study:   up to 99 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
We will be studying up to 750 people with hearing losses or balance problems that are thought to be hereditary and, if possible, their family members, either with or without hearing or balance problems to participate in our study. A total of up to 400 affected and unaffected individuals, including family members and control subjects will be enrolled from the Nigerian population.
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.


Information from the National Library of Medicine

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


Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Nigeria
Institute of Child Health, College of Medicine, University of Ibadan
Ibadan, Nigeria
Sponsors and Collaborators
National Institute on Deafness and Other Communication Disorders (NIDCD)
Investigators
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Principal Investigator: Thomas B Friedman, Ph.D. National Institute on Deafness and Other Communication Disorders (NIDCD)
Additional Information:
Publications:
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Responsible Party: National Institute on Deafness and Other Communication Disorders (NIDCD)
ClinicalTrials.gov Identifier: NCT00023049    
Other Study ID Numbers: 010229
01-DC-0229
First Posted: August 22, 2001    Key Record Dates
Last Update Posted: October 14, 2021
Last Verified: June 15, 2021

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute on Deafness and Other Communication Disorders (NIDCD) ):
Deafness
Phenotypes
Natural History Study
Auditory
DNA Mutations
Hereditary Hearing Disorder
Hearing Impairment
Sensorineural Hearing Loss
Vestibular Dysfunction
SNHL
Additional relevant MeSH terms:
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Hearing Loss
Deafness
Hearing Loss, Sensorineural
Vestibular Diseases
Hearing Disorders
Disease
Pathologic Processes
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Labyrinth Diseases