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Genetic Linkage Studies of Stuttering

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ClinicalTrials.gov Identifier: NCT00001604
Recruitment Status : Completed
First Posted : November 4, 1999
Last Update Posted : May 27, 2020
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Institute on Deafness and Other Communication Disorders (NIDCD) )

Brief Summary:

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 or disease
Stuttering

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 from 2 cc. of saliva or from 20 cc. of blood. These DNA samples will then be genotyped using markers distributed across the human genome. The genotypic information analyzed to determine which markers or variants show linkage to stuttering. The initial goal of this study is to identify specific genetic variants, which predispose individuals to stuttering. No genetic information will be provided back to participants. A secondary goal of the study will be to perform broad clinical evaluations of the individuals found to have mutations that cause stuttering. These will take place at the NIH Clinical Center and will include standard procedures including history and physical, neurological exam, audiological exam, ophthalmologic exam, electromyographic (EMG) exam, electroencephalography (EEG), X-rays, speech evaluation, and brain imaging including MRI and fMRI.

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Study Type : Observational
Actual Enrollment : 3044 participants
Official Title: Genetic Studies of Stuttering
Study Start Date : January 8, 1997

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Stuttering





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:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
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
  • 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.

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 ClinicalTrials.gov identifier (NCT number): NCT00001604


Locations
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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Japan
National Rehabilitation Center for Persons with Disabilities Hospital
Saitama, Japan
Pakistan
University of Punjab
Lahore, Pakistan
Sponsors and Collaborators
National Institute on Deafness and Other Communication Disorders (NIDCD)
Investigators
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Principal Investigator: Carter Van Waes, M.D. National Institute on Deafness and Other Communication Disorders (NIDCD)
Additional Information:
Publications:
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Responsible Party: National Institute on Deafness and Other Communication Disorders (NIDCD)
ClinicalTrials.gov Identifier: NCT00001604    
Other Study ID Numbers: 970057
97-DC-0057
First Posted: November 4, 1999    Key Record Dates
Last Update Posted: May 27, 2020
Last Verified: May 19, 2020
Keywords provided by National Institutes of Health Clinical Center (CC) ( National Institute on Deafness and Other Communication Disorders (NIDCD) ):
DNA Samples
Buccal Swab
Genotyping
Statistical Analysis
Computers
Stuttering
Additional relevant MeSH terms:
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Stuttering
Speech Disorders
Language Disorders
Communication Disorders
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms