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Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis

H

Hadassah Medical Center

Status

Completed

Conditions

Vocal Cord Paralysis

Study type

Observational

Funder types

Other

Identifiers

NCT00382369
VOCALCORD-HMO-CTIL

Details and patient eligibility

About

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.

Full 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.

Enrollment

11 patients

Sex

All

Ages

10+ years old

Volunteers

No Healthy Volunteers

Inclusion criteria

  • members of families suffering of familial vocal cord paralysis

Exclusion criteria

  • none

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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