Ignite Creation Date:
2024-05-05 @ 10:23 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001552
Status:
COMPLETED
Last Update Posted:
2017-07-02
First Post:
1999-11-03
Brief Title:
Characteristics of Idiopathic Familial Voice Disorders
Sponsor:
National Institute of Neurological Disorders and Stroke NINDS
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Characteristics of Idiopathic Familial Voice Disorders
Status:
COMPLETED
Status Verified Date:
2009-11-13
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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
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
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 96-N-0089 | None | None | None |