Genetic Factors Related to Stuttering

Status Completed

Clinical Trial 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). This study is designed to increase understanding of the genetic factors that may relate to stuttering.

Deoxyribonucleic acid (DNA) is a protein found in the nucleus of all cells. It is responsible for carrying the genetic information of the organism. DNA provides the directions for making all of the substances in the human body. DNA can be linked together in small segments called genes. Genes can contain information about anything related to an organism.

In order for researchers to determine what genes are directly related to stuttering they must conduct several types of studies.

Linkage studies, are studies of families that have a lot of members who stutter from several generations. The linkage studies will be completed using adult individuals who are diagnosed as persons who stutter and persons who have never stuttered, from one or more families with large numbers of family members who have stuttered over several generations.

Candidate gene studies, look closely at genes suspected to be related to stuttering in patients who may or may not have a significant family history of stuttering.

By conducting these studies, researchers hope to learn more about genes related to stuttering and ultimately find out what causes stuttering.

Clinical Trial Description

Genetic studies in developmental stuttering are important for their potential in ultimately determining pathophysiological basis of this disorder. This study will combine two approaches to examine genetic aspects of stuttering, linkage in families, and candidate gene analysis. Linkage studies will be completed using adult individuals who are diagnosed as persons who stutter and those who can be judged as never having stuttered from one or more families with large numbers of affected individuals within several generations. Candidate gene analyses will also be carried out in adults who stutter to determine if the frequency of polymorphisms for certain neurotransmitter receptors and enzymes differ from control populations. In addition, given the heterogeneity of the population of adults who stutter, other phenotypic probes such as motor skills, language skills, neuropsychological abilities and psychological responses to stuttering will also be assessed in order to identify subgroups in which the phenotype expression of the gene may differ. ;

Study Design

N/A

Related Conditions & MeSH terms

Stuttering

Clinical Trial Details

NCT number	NCT00001602
Study type	Observational
Source	National Institutes of Health Clinical Center (CC)
Contact
Status	Completed
Phase	N/A
Start date	October 1996
Completion date	February 2005

View Details

See also
Status	Clinical Trial	Phase
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Completed	`NCT02288598` - Enhancing Speech Fluency With Non-invasive Brain Stimulation in Developmental Stuttering	N/A
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Completed	`NCT00001551` - Characteristics of Idiopathic Familial Speech Disorders	N/A
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Completed	`NCT00004991` - Study of Brain Activity During Speech Production and Speech Perception	N/A
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Completed	`NCT01097161` - Stuttering and Apraxia of Speech: the Efficacy of an Intervention Program	N/A

Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.