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Genetic Linkage Studies of Stuttering

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2013 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00001604
First received: November 3, 1999
Last updated: March 14, 2014
Last verified: August 2013
  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.< TAB>


Condition
Stuttering

Study Type: Observational
Official Title: Genetic Studies of Stuttering

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 4000
Study Start Date: January 1997
Detailed Description:

A 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 from 20 cc. of blood. 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 stuttering. The secondary goal of this study is to identify specific genetic variants which predispose individuals to stuttering. No genetic information will be provided back to participants.

  Eligibility

Ages Eligible for Study:   6 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Criteria
  • 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

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.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001604

Contacts
Contact: Dennis T Drayna, Ph.D. (301) 402-4930 drayna@mail.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
Investigators
Principal Investigator: Dennis T Drayna, Ph.D. National Institute on Deafness and Other Communication Disorders (NIDCD)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT00001604     History of Changes
Other Study ID Numbers: 970057, 97-DC-0057
Study First Received: November 3, 1999
Last Updated: March 14, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
DNA Samples
Buccal Swab
Genotyping
Statistical Analysis
Computers
Stuttering

Additional relevant MeSH terms:
Stuttering
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms

ClinicalTrials.gov processed this record on August 01, 2014