Whole Genome Scan of Extended Families With Familial Voca... | NCT00382369

Studies
Whole Genome Scan of Extended Families With Familial Vocal Cord Paralysis

NCT00382369

Sponsor

Hadassah Medical Organization

Status

Completed

Last Update Posted

Feb 27, 2017Actual

Enrollment

11Actual

Phase

Not provided

Conditions

Vocal Cord Paralysis

Interventions

Not provided

Countries

Israel

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Feb 2017

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jun 1, 2008Actual

Primary Completion Date

Nov 17, 2008Actual

Completion Date

Dec 29, 2008Actual

First Submitted Date

Sep 28, 2006

First Submission Date that Met QC Criteria

Sep 28, 2006

First Posted Date

Sep 29, 2006Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Feb 23, 2017

Last Update Posted Date

Feb 27, 2017Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

11Actual

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

members of families suffering of familial vocal cord paralysis

Exclusion Criteria:

none

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

10 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Families suffering of familial vocal cord paralysis

Sampling Method

Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Eitan Kerem, MD	Hadassah MO	Study Director
Batsheva Kerem, PhD	Hebrew University Jerusalem	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Hadassah-Hebrew University Medical Center, Mt Scopus		Jerusalem		24035	Israel

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
11493198	Background	Manaligod JM, Skaggs J, Smith RJ. Localization of the gene for familial laryngeal abductor paralysis to chromosome 6q16. Arch Otolaryngol Head Neck Surg. 2001 Aug;127(8):913-7. doi: 10.1001/archotol.127.8.913.

ID	Term
D007818	Laryngeal Diseases
D012140	Respiratory Tract Diseases
D010038	Otorhinolaryngologic Diseases
D020421	Vagus Nerve Diseases