Laryngeal DiseaseNCT00001552
Characteristics of Idiopathic Familial Voice Disorders
An observational study of Laryngeal Disease and Spastic Dysphonia, run by National Institute of Neurological Disorders and Stroke (NINDS) at 4 sites in 2 countries.
Trial summary
The purpose the study is to determine the genetic causes of specific voice disorders that run in families. Researchers are particularly interested in two conditions; 1. Spasmodic dysphonia 2. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Laryngeal Disease, Spastic Dysphonia, Voice Disorder
- How many people
- 270 participants
- Where
- 4 sitesin 2 countries
- Study dates
- 22 May 1996to 13 Nov 2009
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Who may be able to join
- Symptoms present during speech and not apparent at rest,
- Symptoms less evident during whisper, singing or falsetto.
- Symptoms become worse with prolonged speaking, practice or anxiety.
- Reflexive and emotional aspects of voice function are unaffected, such as coughing, laughter or crying.
Who cannot join
- Any patient with a history of airway obstruction will be excluded from the study.
- Structural abnormalities affecting the larynx such as vocal fold nodules, polyps, carcinoma, cysts, contact ulcers, or inflammation (laryngitis).
- Reduction in vocal fold movement range during non-speech tasks such as whistling which would suggest either paralysis or paresis, joint abnormality or neoplasm.
- No smokers or tobacco users will be included in the study.
- Subjects with history of a psychiatric disorder, under the care of a psychiatrist, or on medications for treatment of a psychiatric disorder will be excluded from the study. Examples of psychiatric disorders to be excluded are: somatoform disorders, conversion disorders, currently under treatment for a major depression, or a history of schizophrenia or a bipolar disorder. However, a history of a previous episode of a minor reactive depression would not exclude a person from participation.
Trial locations and contacts
4 sites in 2 countries.
4 sites in 2 countries
United States2 sites
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, 20892
University of Iowa
Iowa City, Iowa, 52242
United Kingdom2 sites
Kennedy-Galton Centre Medical & Community Genetics
Harrow
Institute of Cancer Research
Sutton
About this study
The purpose the study is to determine the genetic causes of specific voice disorders that run in families. Researchers are particularly interested in two conditions;
- Spasmodic dysphonia
- Vocal fold paralysis
Familial vocal fold paralysis can be a life-threatening disorder that can cause difficulty with vocal fold movement for breathing and voice and sometimes for swallowing. Studies are ongoing at the NIH to better understand the pathophysiology and to relate it to the genetic pattern of inheritance. Families are being recruited to participate in these studies and are being provided with further information on the disorder and genetic counseling if desired. Physician referral is requested for affected members of families with vocal fold paralysis of an unknown cause occurring over at least 2 generations. All travel, lodging, examination and counseling costs are covered for both affected and unaffected members of a family. Examinations include: voice, laryngeal, neurological, electrodiagnostic testing, genetic counseling, and radiological studies....
Read the detailed description
OBJECTIVE:
Our purpose is to examine for evidence of genetic risk factors associated with idiopathic laryngeal motor control disorders. During the conception of the protocol, we were interested in investigating the pattern of inheritance of familial voice disorders, specifically spasmodic dysphonia and tremor. Interestingly, the initial search for families revealed several large families with idiopathic vocal fold paralysis with some family members experiencing symptoms of spasmodic dysphonia. During subsequent years, the research has focused on inherited forms of vocal fold paralysis in an attempt to determine the relationship between the laryngeal motor control disorder and other associated neuropathies, and to determine the existence of a specific genetic abnormality. These idiopathic laryngeal motor control disorders were one manifestation of peripheral neuropathies or may be an isolated disorder with only laryngeal involvement. Subsequently, we have shifted our emphasis back to the identification of genetic risk factors for spasmodic dysphonia.
Hypothesis 1) Familial risk factors for spasmodic dysphonia result in a particular phenotype and genotype.
Hypothesis 2) Environmental risk factors may differentiate between affected and unaffected members of families with spasmodic dysphonia.
Hypothesis 3) Whole genome screening will identify SNPs associated with the occurrence of spasmodic dysphonia.
STUDY POPULATION:
Families with multiple members affected with spasmodic dysphonia, vocal fold paralysis, and tremor will be ascertained.
DESIGN:
A pedigree will be developed via a questionnaire and voice history. Affected and unaffected family members will be examined to determine the presence and extent of their laryngeal motor control disorder. Affected family members will also undergo neurological examination and nerve and muscle studies to determine the loci of their pathology. A genotype will be developed for affected and unaffected family members, through DNA testing of blood samples.
OUTCOME MEASURES:
This is a natural history study characterizing the phenotype and genotype of idiopathic laryngeal motor control disorders.
- Conditions
- Laryngeal Disease, Spastic Dysphonia, Voice Disorder
- Keywords
- Spasmodic Dysphonia, Pedigree, Vocal Fold Paralysis, Voice Disorder
- Medical subject headings
- Laryngeal Diseases, Dysphonia, Voice Disorders
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 May 1996
- Primary completion13 Nov 2009
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Laryngeal DiseaseStudies of the same condition, open and under way.
- More trials run by National Institute of Neurological Disorders and Stroke (NINDS)The sponsor's other registered studies.
- 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
- Enrolment
- 270 participants
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00001552
- Sponsor's protocol ID
- 960089
- Other IDs
- 96-N-0089
- Status last verified
- 13 Nov 2009
- First submitted
- 3 Nov 1999
- Last updated
- 2 Jul 2017
- Results posted
- No
Publications
Conway D, Bain PG, Warner TT, Davis MB, Findley LJ, Thompson PD, Marsden CD, Harding AE. Linkage analysis with chromosome 9 markers in hereditary essential tremor. Mov Disord. 1993 Jul;8(3):374-6. doi: 10.1002/mds.870080324.
PubMed 8341306Durr A, Stevanin G, Jedynak CP, Penet C, Agid Y, Brice A. Familial essential tremor and idiopathic torsion dystonia are different genetic entities. Neurology. 1993 Nov;43(11):2212-4. doi: 10.1212/wnl.43.11.2212.
PubMed 8232931Dyck PJ, Litchy WJ, Minnerath S, Bird TD, Chance PF, Schaid DJ, Aronson AE. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol. 1994 May;35(5):608-15. doi: 10.1002/ana.410350515.
PubMed 8179305
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characteristics of Idiopathic Familial Voice Disorders
- ClinicalTrials.gov ID
- NCT00001552
- Acronym / sponsor ID
- 960089
- Conditions
- Laryngeal Disease, Spastic Dysphonia, Voice Disorder
- Keywords
- Spasmodic Dysphonia, Pedigree, Vocal Fold Paralysis, Voice Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 270 participants
- Lead sponsor
- National Institute of Neurological Disorders and Stroke (NINDS)US National Institutes of Health
- Study start
- 22 May 1996
- Primary completion
- 13 Nov 2009 (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.
The purpose the study is to determine the genetic causes of specific voice disorders that run in families. Researchers are particularly interested in two conditions;
- Spasmodic dysphonia
- Vocal fold paralysis
Familial vocal fold paralysis can be a life-threatening disorder that can cause difficulty with vocal fold movement for breathing and voice and sometimes for swallowing. Studies are ongoing at the NIH to better understand the pathophysiology and to relate it to the genetic pattern of inheritance. Families are being recruited to participate in these studies and are being provided with further information on the disorder and genetic counseling if desired. Physician referral is requested for affected members of families with vocal fold paralysis of an unknown cause occurring over at least 2 generations. All travel, lodging, examination and counseling costs are covered for both affected and unaffected members of a family. Examinations include: voice, laryngeal, neurological, electrodiagnostic testing, genetic counseling, and radiological studies....
Detailed description
OBJECTIVE:
Our purpose is to examine for evidence of genetic risk factors associated with idiopathic laryngeal motor control disorders. During the conception of the protocol, we were interested in investigating the pattern of inheritance of familial voice disorders, specifically spasmodic dysphonia and tremor. Interestingly, the initial search for families revealed several large families with idiopathic vocal fold paralysis with some family members experiencing symptoms of spasmodic dysphonia. During subsequent years, the research has focused on inherited forms of vocal fold paralysis in an attempt to determine the relationship between the laryngeal motor control disorder and other associated neuropathies, and to determine the existence of a specific genetic abnormality. These idiopathic laryngeal motor control disorders were one manifestation of peripheral neuropathies or may be an isolated disorder with only laryngeal involvement. Subsequently, we have shifted our emphasis back to the identification of genetic risk factors for spasmodic dysphonia.
Hypothesis 1) Familial risk factors for spasmodic dysphonia result in a particular phenotype and genotype.
Hypothesis 2) Environmental risk factors may differentiate between affected and unaffected members of families with spasmodic dysphonia.
Hypothesis 3) Whole genome screening will identify SNPs associated with the occurrence of spasmodic dysphonia.
STUDY POPULATION:
Families with multiple members affected with spasmodic dysphonia, vocal fold paralysis, and tremor will be ascertained.
DESIGN:
A pedigree will be developed via a questionnaire and voice history. Affected and unaffected family members will be examined to determine the presence and extent of their laryngeal motor control disorder. Affected family members will also undergo neurological examination and nerve and muscle studies to determine the loci of their pathology. A genotype will be developed for affected and unaffected family members, through DNA testing of blood samples.
OUTCOME MEASURES:
This is a natural history study characterizing the phenotype and genotype of idiopathic laryngeal motor control disorders.
Study design
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Symptoms present during speech and not apparent at rest,
- Symptoms less evident during whisper, singing or falsetto.
- Symptoms become worse with prolonged speaking, practice or anxiety.
- Reflexive and emotional aspects of voice function are unaffected, such as coughing, laughter or crying.
Key exclusion criteria (5 listed)
- Any patient with a history of airway obstruction will be excluded from the study.
- Structural abnormalities affecting the larynx such as vocal fold nodules, polyps, carcinoma, cysts, contact ulcers, or inflammation (laryngitis).
- Reduction in vocal fold movement range during non-speech tasks such as whistling which would suggest either paralysis or paresis, joint abnormality or neoplasm.
- No smokers or tobacco users will be included in the study.
- Subjects with history of a psychiatric disorder, under the care of a psychiatrist, or on medications for treatment of a psychiatric disorder will be excluded from the study. Examples of psychiatric disorders to be excluded are: somatoform disorders, conversion disorders, currently under treatment for a major depression, or a history of schizophrenia or a bipolar disorder. However, a history of a previous episode of a minor reactive depression would not exclude a person from participation.
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
Not reported in the source record.
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 2 Jul 2017.
- Background: PubMed 8341306Conway D, Bain PG, Warner TT, Davis MB, Findley LJ, Thompson PD, Marsden CD, Harding AE. Linkage analysis with chromosome 9 markers in hereditary essential tremor. Mov Disord. 1993 Jul;8(3):374-6. doi: 10.1002/mds.870080324.
- Background: PubMed 8232931Durr A, Stevanin G, Jedynak CP, Penet C, Agid Y, Brice A. Familial essential tremor and idiopathic torsion dystonia are different genetic entities. Neurology. 1993 Nov;43(11):2212-4. doi: 10.1212/wnl.43.11.2212.
- Background: PubMed 8179305Dyck PJ, Litchy WJ, Minnerath S, Bird TD, Chance PF, Schaid DJ, Aronson AE. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol. 1994 May;35(5):608-15. doi: 10.1002/ana.410350515.
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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.
The record lists no contact. Use the official record to reach the sponsor.
4 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Laryngeal Disease and Spastic Dysphonia, run by National Institute of Neurological Disorders and Stroke (NINDS) at 4 sites in 2 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 2 Jul 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, United Kingdom. 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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00001552, which also lists 3 linked publications.
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 2 Jul 2017.