Genetic Linkage Studies of Stuttering
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|ClinicalTrials.gov Identifier: NCT00001604|
Recruitment Status : Completed
First Posted : November 4, 1999
Last Update Posted : September 17, 2020
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|
|Study Type :||Observational|
|Actual Enrollment :||3044 participants|
|Official Title:||Genetic Studies of Stuttering|
|Actual Study Start Date :||July 22, 2003|
Subjects with a family history of stuttering
- To identify genetic mutations or variants that predispose humans to stuttering. [ Time Frame: ongoing ]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.
- Perform clinical and physical evaluations on those individuals who stutter and possess these genetic variants [ Time Frame: ongoing ]disorders in study subjects carrying genetic variants shown to be associated with stuttering in the primary outcome measures.
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
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|University of Punjab|
|Principal Investigator:||Carter Van Waes, M.D.||National Institute on Deafness and Other Communication Disorders (NIDCD)|