Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis
Recruitment status was Recruiting
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Purpose
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.
| Condition |
|---|
|
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 |
DNA prepared from blood
| Estimated Enrollment: | 60 |
| Study Start Date: | May 2005 |
| Estimated Study Completion Date: | December 2007 |
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.
Eligibility| Ages Eligible for Study: | 10 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Probability Sample |
Families suffering of familial vocal cord paralysis
Inclusion Criteria:
- members of families suffering of familial vocal cord paralysis
Exclusion Criteria:
- none
Contacts and Locations| Contact: Eitan Kerem, MD | 972-2-5844430 | kerem@hadassah.org.il |
| Israel | |
| Hadassah-Hebrew University Medical Center, Mt Scopus | Recruiting |
| Jerusalem, Israel, 24035 | |
| Contact: Arik Tzukert, DMD 00 972 2 6776095 arik@hadassah.org.il | |
| Contact: Hadas Lemberg, PhD 00 972 2 6777572 lhadas@hadassah.org.il | |
| Sub-Investigator: Ariela Simon, MD | |
| Study Director: | Eitan Kerem, MD | Hadassah MO |
| Principal Investigator: | Batsheva Kerem, PhD | Hebrew University Jerusalem |
More Information
Publications:
| Responsible Party: | Prof Eitan Kerem, Hadassah Medical Organization |
| ClinicalTrials.gov Identifier: | NCT00382369 History of Changes |
| Other Study ID Numbers: | VOCALCORD-HMO-CTIL |
| Study First Received: | September 28, 2006 |
| Last Updated: | May 12, 2008 |
| Health Authority: | Israel: Israeli Health Ministry Pharmaceutical Administration |
Keywords provided by Hadassah Medical Organization:
|
familial vocal cord paralysis genetic screening |
Additional relevant MeSH terms:
|
Vocal Cord Paralysis Paralysis Laryngeal Diseases Respiratory Tract Diseases Otorhinolaryngologic Diseases |
Vagus Nerve Diseases Cranial Nerve Diseases Nervous System Diseases Neurologic Manifestations Signs and Symptoms |
ClinicalTrials.gov processed this record on June 18, 2013