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Protocol Details

Genetic Studies of Stuttering

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

97-DC-0057

Sponsoring Institute

National Institute on Deafness and Other Communication Disorders (NIDCD)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 6
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

DNA Samples;
Buccal Swab;
Genotyping;
Statistical Analysis;
Computers

Recruitment Keyword(s)

Stuttering

Condition(s)

Stuttering

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute on Deafness and Other Communication Disorders

Stuttering is an abnormality in speech that affects the rhythm of speech. People who stutter know what they wish to say, but at the time are unable to say it because of involuntary repetition, unnecessary lengthening (prolongation), or early stopping (cessation). Stuttering is characterized by repetitions or prolongation of the first syllable, or silent prolongations, sometimes known as blocks.

Researcher intend on studying the genetic basis for stuttering. The goal of the study is to find the genes that help cause stuttering and determine regions of the human genetic make-up (genome) that are linked to stuttering.. To do this researchers will study the patterns of inheritance in families who have had members who stutter.

The study has two objectives.

The first objective is to develop a large collection of DNA samples from individuals in stuttering families, that will include both members that stutter and who do not stutter.

The second objective of the study will be to find out the basic combination of genes (genotype) making up all of the participants DNA. Once this is completed researchers hope to map out and find areas or regions of DNA that are linked to stuttering.

Genetic linkage is the initial step in positional cloning, and the cloning of genes which predispose individuals to stuttering is a long term goal of this research study.<TAB>

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Eligibility

INCLUSION CRITERIA:

- Individuals age 8 and older.

- Individuals age 6-8 with a family history of persistent stuttering

- Have stuttering that persists for a period of 6 months or more or are a family member of that person

-For the Phase 2 imaging studies, we will be enrolling up to 25 healthy volunteers to be controls

EXCLUSION CRITERIA:

- Stuttering only as a young child (not beyond the age of 5)

- Cannot provide informed consent or have a parent/guardian to provide consent

- Developed stuttering following trauma to the central nervous system.

- Chronic medical conditions that prevent informed consent or clear evaluation of stuttering, including stroke, dementia, and degenerative neurological disease.


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Citations:

Vertical transmission of susceptibility to stuttering with sex-modified expression

Genetic factors in stuttering confirmed

Concordance for stuttering in monozygotic and dizygotic twin pairs

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Contacts:

Principal Investigator

Referral Contact

For more information:

Dennis T. Drayna, Ph.D.
National Institute on Deafness and Other Communication Disorders (NIDCD)
National Institutes of Health
5 Research Court
Room 2B46
Rockville, Maryland 20850
(301) 402-4930
drayna@mail.nih.gov

Dennis T. Drayna, Ph.D.
National Institute on Deafness and Other Communication Disorders (NIDCD)
National Institutes of Health
5 Research Court
Room 2B46
Rockville, Maryland 20850
(301) 402-4930
drayna@mail.nih.gov

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: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT00001604

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