An observational study in Stuttering, sponsored by National Institute on Deafness and Other Communication Disorders (NIDCD). Completed at 3 sites in 3 countries. Open to participants aged 6 Years and older. Per ClinicalTrials.gov, last updated 2024-11-18.
Sponsored by National Institute on Deafness and Other Communication Disorders (NIDCD) · Observational
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>
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.
74 studies on the registry are indexed under Stuttering; 23 are open to participants now.
This study's enrollment of 3,044 is above the median of 60 across 15 observational studies indexed under Stuttering.
Browse Stuttering studies →National Institute on Deafness and Other Communication Disorders (NIDCD) is the lead sponsor of 37 studies on the registry; 7 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Subjects will be selected primarily on the basis of family history of stuttering. Certain populations, such as those in Pakistan present increased power to detect genetic influences on stuttering, and such populations will be preferentially enrolled where possible and appropriate. No one will be excluded on the basis of gender or ethnic/racial background.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
EXCLUSION CRITERIA:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Subjects with a family history of stuttering
To identify genetic mutations or variants that predispose humans to stuttering.
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.
Time frame: ongoing
Perform clinical and physical evaluations on those individuals who stutter and possess these genetic variants
disorders in study subjects carrying genetic variants shown to be associated with stuttering in the primary outcome measures.
Time frame: ongoing
This study is completed, as verified in Nov 2024. You cannot join it, but the record below documents what was studied.
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National Institute on Deafness and Other Communication Disorders (NIDCD) →