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| Tracking Information | |||||||||
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| First Received Date ICMJE | November 3, 1999 | ||||||||
| Last Updated Date | August 24, 2009 | ||||||||
| Start Date ICMJE | January 1997 | ||||||||
| Estimated Primary Completion Date | November 2001 (final data collection date for primary outcome measure) | ||||||||
| Current Primary Outcome Measures ICMJE | |||||||||
| Original Primary Outcome Measures ICMJE |
Academic engagement, affiliation with prosocial friends, and restraing/non-agression. | ||||||||
| Change History | Complete list of historical versions of study NCT00001604 on ClinicalTrials.gov Archive Site | ||||||||
| Current Secondary Outcome Measures ICMJE | |||||||||
| Original Secondary Outcome Measures ICMJE | |||||||||
| Descriptive Information | |||||||||
| Brief Title ICMJE | Genetic Linkage Studies of Stuttering | ||||||||
| Official Title ICMJE | Non-Parametric and Parametric Linkage Studies of Stuttering | ||||||||
| 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. |
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| Detailed Description | The 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 by buccal swab or by 20 cc blood draw. These DNA's will then be genotyped using markers distributed across the human genome, and the genotypic information analyzed to determine which markers show linkage to stuttering. Genetic linkage is the initial step in the process of identification of specific genetic variants, which predispose individuals to stuttering is a long term goal of this research. No genetic information will be provided back to participants. |
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| Study Phase | |||||||||
| Study Type ICMJE | Observational | ||||||||
| Study Design ICMJE | |||||||||
| Condition ICMJE | Stuttering | ||||||||
| Intervention ICMJE | |||||||||
| Study Arms / Comparison Groups | |||||||||
| Publications * |
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* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline. |
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| Recruitment Information | |||||||||
| Recruitment Status ICMJE | Recruiting | ||||||||
| Enrollment ICMJE | 4000 | ||||||||
| Completion Date | |||||||||
| Estimated Primary Completion Date | November 2001 (final data collection date for primary outcome measure) | ||||||||
| Eligibility Criteria ICMJE |
This study includes literate individuals 8 years of age and over. This study also requires stuttering that persists for a period of 6 months or more, which is taken as a standard minimum period that defines stuttering. This study includes both males and females, although families with affected females are specifically solicited, since females are less afflicted with this disorder in adulthood. This study includes all racial and ethnic groups, and will specifically seek stutterers from genetically isolated populations (e.g. Ethnic Israeli, West Africa), since these may provide increased power to detect linkage and subsequently narrow the position of the genes involved. EXCLUSION CRITERIA: Families in which affected family members (beyond the proband) stuttered only as children. Families with no clearly affected individuals beyond the proband. Cognitively impaired individuals, in the instances that their impairment prevents understanding and free decision-making regarding the Informed Consent. Individuals who developed stuttering following trauma to the central nervous system. Individuals with chronic medical conditions that prevent clear evaluation of stuttering, including stroke, dementia, and degenerative neurological disease. Illiterate Individuals. |
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| Gender | Both | ||||||||
| Ages | 8 Years and older | ||||||||
| Accepts Healthy Volunteers | Yes | ||||||||
| Contacts ICMJE |
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| Location Countries ICMJE | United States, Pakistan | ||||||||
| Administrative Information | |||||||||
| NCT ID ICMJE | NCT00001604 | ||||||||
| Responsible Party | |||||||||
| Study ID Numbers ICMJE | 970057, 97-DC-0057 | ||||||||
| Study Sponsor ICMJE | National Institute on Deafness and Other Communication Disorders (NIDCD) | ||||||||
| Collaborators ICMJE | |||||||||
| Investigators ICMJE | |||||||||
| Information Provided By | National Institutes of Health Clinical Center (CC) | ||||||||
| Verification Date | December 2008 | ||||||||
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ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP |
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