Characteristics of Idiopathic Familial Voice Disorders

June 30, 2017 updated by: National Institute of Neurological Disorders and Stroke (NINDS)

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....

Study Overview

Status

Completed

Conditions

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 Type

Observational

Enrollment

270

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United Kingdom
      • Harrow, United Kingdom
        • Kennedy-Galton Centre Medical & Community Genetics
      • Sutton, United Kingdom
        • Institute of Cancer Research
  • United States
    • Iowa
      • Iowa City, Iowa, United States, 52242
        • University of Iowa
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • 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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

May 22, 1996

Primary Completion (Actual)

November 13, 2009

Study Registration Dates

First Submitted

November 3, 1999

First Submitted That Met QC Criteria

November 3, 1999

First Posted (Estimate)

November 4, 1999

Study Record Updates

Last Update Posted (Actual)

July 2, 2017

Last Update Submitted That Met QC Criteria

June 30, 2017

Last Verified

November 13, 2009

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 960089
  • 96-N-0089

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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