Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis

February 23, 2017 updated by: Kerem Eithan, Hadassah Medical Organization
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.

Study Overview

Status

Completed

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.

Study Type

Observational

Enrollment (Actual)

11

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

      • Jerusalem, Israel, 24035
        • Hadassah-Hebrew University Medical Center, Mt Scopus

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

10 years and older (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Families suffering of familial vocal cord paralysis

Description

Inclusion Criteria:

  • members of families suffering of familial vocal cord paralysis

Exclusion Criteria:

  • none

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?

Design Details

Collaborators and Investigators

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

Investigators

  • Study Director: Eitan Kerem, MD, Hadassah MO
  • Principal Investigator: Batsheva Kerem, PhD, Hebrew University Jerusalem

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.

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 (ACTUAL)

June 1, 2008

Primary Completion (ACTUAL)

November 17, 2008

Study Completion (ACTUAL)

December 29, 2008

Study Registration Dates

First Submitted

September 28, 2006

First Submitted That Met QC Criteria

September 28, 2006

First Posted (ESTIMATE)

September 29, 2006

Study Record Updates

Last Update Posted (ACTUAL)

February 27, 2017

Last Update Submitted That Met QC Criteria

February 23, 2017

Last Verified

February 1, 2017

More Information

Terms related to this study

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

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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