Viewing Study NCT00001602


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Study NCT ID: NCT00001602
Status: COMPLETED
Last Update Posted: 2008-03-04
First Post: 1999-11-03
Is NOT Gene Therapy: False
Has Adverse Events: False

Brief Title: Genetic Factors Related to Stuttering
Sponsor: National Institute on Deafness and Other Communication Disorders (NIDCD)
Organization:

Study Overview

Official Title: Genetic Linkage Analysis in Developmental Stuttering: Gene Mapping in Extended Kindreds and Candidate Gene Analyses
Status: COMPLETED
Status Verified Date: 2005-02
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
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). 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.
Detailed 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 Oversight

Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:

Secondary ID Infos

Secondary ID Type Domain Link View
97-DC-0002 None None View