Genetic Linkage Studies of Stuttering

NCT00001604 | Completed

• 2 other identifiers: 97005797-DC-0057
• Study Type: observational
• Target: 3,044
• Locations: 3 countries
• Sites: 3

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\>

Conditions

Stuttering

Keywords

DNA Samples; Stuttering; DNA Testing; Statistical Analysis; Genetic Analysis; Natural History

Outcome Measures

Primary Outcomes (1)

• To identify genetic mutations or variants that predispose humans to stuttering.

  Our primary outcome measures are the observation or exclusion of genetic linkage to stuttering at a discreet locus or genetic association with stuttering with a specific genetic variant.

  ongoing

Secondary Outcomes (1)

• Perform clinical and physical evaluations on those individuals who stutter and possess these genetic variants

  ongoing

Study Arms (1)

1

Subjects with a family history of stuttering

Eligibility Criteria

• Age: 6 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Subjects will be selected primarily on the basis of family history of stuttering. Certain populations, such as those in Pakistan present increased power to detect genetic influences on stuttering, and such populations will be preferentially enrolled where possible and appropriate. No one will be excluded on the basis of gender or ethnic/racial background.

You may qualify if:

• 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

You may not qualify if:

• Stuttering only as a young child (before age 5) with no other family members who stutter
• Inability to provide informed consent or have a parent/guardian to provide consent
• Development of 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.
• Inability to travel to the NIH Clinical Center for Phase 2

Sponsors & Collaborators

• National Institute on Deafness and Other Communication Disorders (NIDCD): lead

Study Sites (3)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location

National Rehabilitation Center for Persons with Disabilities Hospital

Saitama, Japan

Location

NCEMB - University of Punjab

Lahore, Pakistan

Location

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Stuttering

Condition Hierarchy (Ancestors)

Speech Disorders; Language Disorders; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Joshua Levy, M.D.

  National Institute on Deafness and Other Communication Disorders (NIDCD)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: November 4, 1999
• Study Start: July 22, 2003
• Primary Completion: June 24, 2019
• Study Completion: June 24, 2019
• Last Updated: November 18, 2024

Record last verified: 2024-11

Locations

JP (1); PA (1); US (1)