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Genetic Studies of Tone Deafness

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00006076
Recruitment Status : Completed
First Posted : July 31, 2000
Last Update Posted : July 2, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief Summary:

This study will examine the hereditary basis of tone deafness by identifying regions of the human genome linked to this condition. Both exceptionally good pitch recognition (perfect pitch) and exceptionally poor pitch recognition (tone deafness) run in families. A better understanding of what causes tone deafness may provide new insights into auditory (hearing) function.

Individuals with two or more family members 15 years of age or older who are tone deaf or have trouble recognizing different melodies may be eligible for this study. Candidates will be screened with a short listening test for pitch and a short written test. Those identified with poor pitch recognition will fill out a brief questionnaire about their family tree and family members (without identifying names) who have trouble recognizing melodies or tones. Individuals with poor pitch recognition will be asked to help contact family members who may be interested in participating.

Members of families with two or more first-degree relatives (parents, grandparents, siblings) who are tone deaf may enroll in the study. They will provide a blood sample (about 2 tablespoons) for genetic studies and may take a 20-minute hearing test using headphones.

Condition or disease
Healthy Tone Deafness

Detailed Description:
The primary goal of this study is to identify regions of the genome which show genetic linkage to deficits in pitch recognition. Pitch recognition in subjects will be tested to identify individuals and families with poor pitch recognition, known as tune deafness, defined as the inability to recognize wrong notes in a popular melody. We will undertake a 2-stage process, first a screening to identify probands, and secondly a full family ascertainment and enrollment. Probands and family members will be given an auditory and verbal attention test, and additions listening tests to measure aspects of center auditory processing and attention. Family phenotypic data will be used for additional epidemiological studies of tune deafness. Affected and unaffected members of families containing multiple tune deaf individuals will have 20 cc of blood drawn to obtain DNA. These DNA samples will then be genotyped using markers distributed across the human genome, and the genotypic information analyzed to determine which markers show linkage to tune deafness. Genetic linkage is the initial step in the process of positional cloning, and cloning the defective genes which underlie tune deafness is a long term goal of this research.

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Study Type : Observational
Actual Enrollment : 968 participants
Official Title: Genetic Studies of Tune Deafness
Study Start Date : July 26, 2000
Study Completion Date : June 29, 2010

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   15 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Individuals over the age of 15.

This study includes both males and females, and includes members of all racial and ethnic groups. This study includes both normal and tune deaf individuals, as well as individuals that may have intermediate scores on the Distorted Tunes Test, indicating a status between completely tune deaf and normal.


Hearing impaired individuals, as first estimated by a score of 25 or greater on the American Academy of Otolaryngology's 5 Minute Hearing Test, or subsequently by audiological exam.

Cognitively impaired individuals.

Family members in families where only one person exhibits tune deafness.

Individuals currently using psychoactive medication.

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 identifier (NCT number): NCT00006076

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute on Deafness and Other Communication Disorders (NIDCD)
Layout table for additonal information Identifier: NCT00006076    
Other Study ID Numbers: 000176
First Posted: July 31, 2000    Key Record Dates
Last Update Posted: July 2, 2017
Last Verified: June 29, 2010
Keywords provided by National Institutes of Health Clinical Center (CC):
Auditory Processing
Pitch Recognition
Tone Deafness
Tune Deafness
Congenital Amusia
Healthy Volunteer
Additional relevant MeSH terms:
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Hearing Loss
Hearing Disorders
Ear Diseases
Otorhinolaryngologic Diseases
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases