StutteringNCT00001604
Genetic Linkage Studies of Stuttering
An observational study of Stuttering, run by National Institute on Deafness and Other Communication Disorders (NIDCD) at 3 sites in 3 countries.
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). Read more about this study
- Who is it for?
- Ages 6 years and older
- Conditions the study is for
- Stuttering
- How many people
- 3,044 participants
- Where
- 3 sitesin 3 countries
- Study dates
- 22 Jul 2003to 24 Jun 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 6 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: 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.
Who may be able to join
- Individuals age 8 and older.
- Individuals age 6-8 with a family history of persistent stuttering
- Have stuttering that persists for a period of 6 months or more or are a family member of that person
- For the Phase 2 imaging studies, we will be enrolling up to 25 healthy volunteers to be controls
Who cannot join
- Stuttering only as a young child (before age 5) with no other family members who stutter
- Inability to provide informed consent or have a parent/guardian to provide consent
- Development of stuttering following trauma to the central nervous system.
- Chronic medical conditions that prevent informed consent or clear evaluation of stuttering, including stroke, dementia, and degenerative neurological disease.
- Inability to travel to the NIH Clinical Center for Phase 2
Trial locations and contacts
3 sites in 3 countries.
3 sites in 3 countries
United States1 site
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
Japan1 site
National Rehabilitation Center for Persons with Disabilities Hospital
Saitama
About this study
Official title: Genetic Studies of Stuttering
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.
Read more
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>
Read the detailed 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.
- Conditions
- Stuttering
- Keywords
- DNA Samples, Stuttering, DNA Testing, Statistical Analysis, Genetic Analysis, Natural History
- Medical subject headings
- Stuttering
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | Subjects with a family history of stuttering |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: ongoing
Secondary outcomes (1)
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.
Measured: ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Nov 1999 (estimated)
- Study start22 Jul 2003
- Primary completion24 Jun 2019
- Study completion24 Jun 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for StutteringStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 3,044 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Joshua Levy, M.D., Principal investigator, National Institute on Deafness and Other Communication Disorders (NIDCD)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001604
- Sponsor's protocol ID
- 970057
- Other IDs
- 97-DC-0057
- Status last verified
- Nov 2024
- First submitted
- 3 Nov 1999
- Last updated
- 18 Nov 2024
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Nov 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Studies of Stuttering
- ClinicalTrials.gov ID
- NCT00001604
- Acronym / sponsor ID
- 970057
- Conditions
- Stuttering
- Keywords
- DNA Samples, Stuttering, DNA Testing, Statistical Analysis, Genetic Analysis, Natural History
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,044 participants (actual)
- Lead sponsor
- National Institute on Deafness and Other Communication Disorders (NIDCD)US National Institutes of Health
- Study start
- 22 Jul 2003 (actual)
- Primary completion
- 24 Jun 2019 (actual)
- Study completion
- 24 Jun 2019 (actual)
- First posted
- 4 Nov 1999 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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>
Detailed 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
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –Subjects with a family history of stuttering |
Who may qualify
- Ages
- 6 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 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.
Key inclusion criteria (4 listed)
- Individuals age 8 and older.
- Individuals age 6-8 with a family history of persistent stuttering
- Have stuttering that persists for a period of 6 months or more or are a family member of that person
- For the Phase 2 imaging studies, we will be enrolling up to 25 healthy volunteers to be controls
Key exclusion criteria (5 listed)
- Stuttering only as a young child (before age 5) with no other family members who stutter
- Inability to provide informed consent or have a parent/guardian to provide consent
- Development of stuttering following trauma to the central nervous system.
- Chronic medical conditions that prevent informed consent or clear evaluation of stuttering, including stroke, dementia, and degenerative neurological disease.
- Inability to travel to the NIH Clinical Center for Phase 2
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To identify genetic mutations or variants that predispose humans to stuttering.
Time frame: ongoing
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.
1 secondary outcome
Perform clinical and physical evaluations on those individuals who stutter and possess these genetic variants
Time frame: ongoing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Nov 2024.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Joshua Levy, M.D. principal investigator
National Institute on Deafness and Other Communication Disorders (NIDCD)
3 sites in 3 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Stuttering, run by National Institute on Deafness and Other Communication Disorders (NIDCD) at 3 sites in 3 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Nov 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Japan, Pakistan. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To identify genetic mutations or variants that predispose humans to stuttering. (time frame: ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Nov 2024.