Genetic Analysis of Human Hereditary Hearing Impairment

NCT00001606 | Terminated

• 2 other identifiers: 97018097-DC-0180
• Study Type: observational
• Target: 404
• Locations: 1 country
• Sites: 1

Brief Summary

This studied is designed to discover the genes that cause hearing impairment. More precisely, this study aims to map and clone genes that are important for the development and maintenance of the anatomy and physiology related to hearing (auditory system). The study will begin by finding large families who have members with hearing impairment. Once families are found, members with and without hearing impairment will be evaluated by an audiologist and a clinician (doctor). An audiologist, is a person trained in evaluating, habilitating, and rehabilitating people with disorders of hearing function. The clinician's responsibility is to examine the patients and check for other signs and symptoms related to hearing. Finding the gene for hearing impairment requires:

1. 1.\<TAB\>DNA samples of hearing impaired family members, taken from standard blood samples.
2. 2.\<TAB\>DNA samples of members of the family without hearing impairment, taken from standard blood samples.
3. 3.\<TAB\>Results of hearing tests conducted by the audiologist for all participants.

Conditions

Partial Hearing Loss

Keywords

Linkage Analysis; Positional Cloning; Mutation Screening; Syndromic Hearing Impairment; Non-Syndromic Hearing Impairment

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• It is anticipated that, in most cases, patients will be recruited whose disorders do not appear to be syndromic (i.e. are not associated with extra-auditory or extra-vestibular features).
• We seek subjects who are members of large families with multiple individuals affected with a hearing disorder. Sporadic cases will occasionally be included when the phenotype has features suggestive of mutations in one or a few particular candidate genes, since autosomal or X-linked recessive inheritance can appear to be sporadic.
• If there is evidence of genetic homogeneity, small families can be pooled for linkage analysis, or a combination of large and small families can be pooled.
• Subjects of any ethnic background, gender, age, sexual orientation, or health status will be included.

You may not qualify if:

• Patients will be excluded when their hearing or vestibular dysfunction are known to be caused by a nongenetic etiology such as trauma, infection, metabolic or immunologic disorders, or exposure to ototoxic agents such as noise or aminoglycoside antibiotics.

Sponsors & Collaborators

• National Institute on Deafness and Other Communication Disorders (NIDCD): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

MeSH Terms

Conditions

Hearing Loss

Condition Hierarchy (Ancestors)

Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Thomas B Friedman, Ph.D.

  National Institute on Deafness and Other Communication Disorders (NIDCD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: September 8, 1997
• Study Completion: April 7, 2015
• Last Updated: December 17, 2019

Record last verified: 2015-04-07

Locations

US (1)