Clinical Trials Logo

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). 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>


Clinical Trial 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. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT00001604
Study type Observational
Source National Institutes of Health Clinical Center (CC)
Contact
Status Completed
Phase
Start date July 22, 2003

See also
  Status Clinical Trial Phase
Suspended NCT01684657 - A Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Tolerability of Asenapine With Flexible Dosing From 5mg to 20mg in Adults With Developmental Stuttering Phase 3
Not yet recruiting NCT05437627 - Computerized Based Analysis for Detection and Severity Assessment of Stuttering
Completed NCT02288598 - Enhancing Speech Fluency With Non-invasive Brain Stimulation in Developmental Stuttering N/A
Completed NCT00001602 - Genetic Factors Related to Stuttering N/A
Active, not recruiting NCT04082104 - Assessment of Stuttering Severity in Adults and Adolescences in Conversational and Narrative Contexts
Completed NCT04580966 - IBSR Intervention for Adults Who Stutter N/A
Recruiting NCT00148161 - Activity of the Auditory Cortex During Speech Perception and Speech Production in Stuttering N/A
Recruiting NCT05908123 - Exploring the Nature, Assessment and Treatment of Stuttering N/A
Completed NCT00001551 - Characteristics of Idiopathic Familial Speech Disorders N/A
Withdrawn NCT01315730 - The Effects of Tactile Speech Feedback on Stuttering Frequency Phase 1
Completed NCT00004991 - Study of Brain Activity During Speech Production and Speech Perception N/A
Recruiting NCT05286151 - Network Connectivity and Temporal Processing in Adolescents Who Stutter N/A
Recruiting NCT00680303 - Spacing Lidcombe Program Clinic Visits Phase 2
Recruiting NCT00709072 - Follow-up of Children After Stuttering Treatment Phase 2
Completed NCT00830154 - A Study to Assess the Efficacy and Safety of Pagoclone for Adults With Stuttering Phase 2/Phase 3
Completed NCT03698539 - How Stuttering and Gestures Influence the Intelligibility of Individuals With Down Syndrome
Completed NCT04505696 - Providing Speech Therapy Awareness in Private Schools N/A
Recruiting NCT04929184 - Speech Processing in Stuttering N/A
Terminated NCT00001308 - Central Mechanisms in Speech Motor Control Studied With H215O PET
Completed NCT01097161 - Stuttering and Apraxia of Speech: the Efficacy of an Intervention Program N/A