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| Sponsored by: |
National Institute on Deafness and Other Communication Disorders (NIDCD) |
|---|---|
| Information provided by: | National Institutes of Health Clinical Center (CC) |
| ClinicalTrials.gov Identifier: | NCT00001604 |
Purpose
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.
| Condition |
|---|
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Stuttering |
| Study Type: | Observational |
| Official Title: | Non-Parametric and Parametric Linkage Studies of Stuttering |
| Estimated Enrollment: | 4000 |
| Study Start Date: | January 1997 |
The primary goal of this study is to ascertain regions of the human genome which show genetic linkage to stuttering. Genetic linkage will be determined by first obtaining genomic DNA from both affected and unaffected adults and children from families containing pairs of individuals who stutter as adults. Individuals who stutter from genetically isolated populations will also be sampled. Phenotype will be assigned by a speech-language pathologist, and DNA samples will be obtained from affected and unaffected family members by buccal swab or by 20 cc blood draw. These DNA's will then be genotyped using markers distributed across the human genome, and the genotypic information analyzed to determine which markers show linkage to stuttering. Genetic linkage is the initial step in the process of positional cloning, and the cloning of genes which predispose individuals to stuttering is a long term goal of this research. No genetic information will be provided back to participants.
Eligibility| Ages Eligible for Study: | 8 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | Yes |
This study includes literate individuals 8 years of age and over.
This study also requires stuttering that persists for a period of 6 months or more, which is taken as a standard minimum period that defines stuttering.
This study includes both males and females, although families with affected females are specifically solicited, since females are less afflicted with this disorder in adulthood.
This study includes all racial and ethnic groups, and will specifically seek stutterers from genetically isolated populations (e.g. Ethnic Israeli, West Africa), since these may provide increased power to detect linkage and subsequently narrow the position of the genes involved.
EXCLUSION CRITERIA:
Families in which affected family members (beyond the proband) stuttered only as children.
Families with no clearly affected individuals beyond the proband.
Cognitively impaired individuals, in the instances that their impairment prevents understanding and free decision-making regarding the Informed Consent.
Individuals who developed stuttering following trauma to the central nervous system.
Individuals with chronic medical conditions that prevent clear evaluation of stuttering, including stroke, dementia, and degenerative neurological disease.
Illiterate Individuals.
Contacts and Locations| Contact: Patient Recruitment and Public Liaison Office | (800) 411-1222 | prpl@mail.cc.nih.gov |
| Contact: TTY | 1-866-411-1010 |
| United States, Maryland | |
| National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville | Recruiting |
| Bethesda, Maryland, United States, 20892 | |
| Central African Republic | |
| Tropical Medicine in Kumba, Southwest Province | Recruiting |
| Republic of Cameroon, Central African Republic | |
| Pakistan | |
| Center of Ecellence in Molecular Biology, Univ of the Punjab | Recruiting |
| Lahore, Pakistan | |
More Information
| Study ID Numbers: | 970057, 97-DC-0057 |
| Study First Received: | November 3, 1999 |
| Last Updated: | December 18, 2008 |
| ClinicalTrials.gov Identifier: | NCT00001604 |
| Health Authority: | United States: Federal Government |
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DNA Samples Buccal Swab Genotyping |
Statistical Analysis Computers Stuttering |
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Signs and Symptoms Speech Disorders Neurologic Manifestations Language Disorders |
Stuttering Neurobehavioral Manifestations Communication Disorders |
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Nervous System Diseases |
