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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT00001552
Other study ID # 960089
Secondary ID 96-N-0089
Status Completed
Phase N/A
First received November 3, 1999
Last updated June 30, 2017
Start date May 22, 1996

Study information

Verified date November 13, 2009
Source National Institutes of Health Clinical Center (CC)
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical 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. 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....


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.


Recruitment information / eligibility

Status Completed
Enrollment 270
Est. completion date
Est. primary completion date November 13, 2009
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility - INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

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.

Study Design


Locations

Country Name City State
United Kingdom Kennedy-Galton Centre Medical & Community Genetics Harrow
United Kingdom Institute of Cancer Research Sutton
United States National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda Maryland
United States University of Iowa Iowa City Iowa

Sponsors (1)

Lead Sponsor Collaborator
National Institute of Neurological Disorders and Stroke (NINDS)

Countries where clinical trial is conducted

United States,  United Kingdom, 

References & Publications (3)

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. — View Citation

Dürr 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. — View Citation

Dyck 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. — View Citation

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