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Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis

This study has been completed.
Information provided by (Responsible Party):
Kerem Eithan, Hadassah Medical Organization Identifier:
First received: September 28, 2006
Last updated: February 23, 2017
Last verified: February 2017
Vocal cord paralysis is a common cause of congenital stridor and airway obstruction. In this study we plan to identify the genetic locus of the genes in two extended families who suffer of the disease.

Vocal Cord Paralysis

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis

Resource links provided by NLM:

Further study details as provided by Hadassah Medical Organization:

Biospecimen Retention:   Samples With DNA
DNA prepared from blood

Enrollment: 11
Actual Study Start Date: June 1, 2008
Study Completion Date: December 29, 2008
Primary Completion Date: November 17, 2008 (Final data collection date for primary outcome measure)
Detailed Description:
In a number of families suffering of familial vocal cord paralysis it has previously been shown that the disease is inherited autosomal dominant. In one of the families the gene coding for the disease was located on chromosome 6q16. We will be analyzing 2 extended families with familial vocal cord paralysis to define their genetic defect leading to the disease. All family members will undergo a laryngoscopy to determine the extent of paralysis. For all family members we will isolate DNA and determine their microsatellite polymorphism on chromosome 6q16. If the results are negative we will continue the study and perform a whole genome scan to localize the gene(s) involved.

Ages Eligible for Study:   10 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Families suffering of familial vocal cord paralysis

Inclusion Criteria:

  • members of families suffering of familial vocal cord paralysis

Exclusion Criteria:

  Contacts and Locations
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Please refer to this study by its identifier: NCT00382369

Hadassah-Hebrew University Medical Center, Mt Scopus
Jerusalem, Israel, 24035
Sponsors and Collaborators
Hadassah Medical Organization
Study Director: Eitan Kerem, MD Hadassah MO
Principal Investigator: Batsheva Kerem, PhD Hebrew University Jerusalem
  More Information

Responsible Party: Kerem Eithan, Professor, Hadassah Medical Organization Identifier: NCT00382369     History of Changes
Other Study ID Numbers: VOCALCORD-HMO-CTIL
Study First Received: September 28, 2006
Last Updated: February 23, 2017
Individual Participant Data  
Plan to Share IPD: No

Keywords provided by Hadassah Medical Organization:
familial vocal cord paralysis
genetic screening

Additional relevant MeSH terms:
Vocal Cord Paralysis
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Laryngeal Diseases
Respiratory Tract Diseases
Otorhinolaryngologic Diseases
Vagus Nerve Diseases
Cranial Nerve Diseases processed this record on May 24, 2017