Genetic Study of Patients With Primary Ciliary Dyskinesia | NCT00005650

Studies
Genetic Study of Patients With Primary Ciliary Dyskinesia

NCT00005650

Sponsor

National Center for Research Resources (NCRR)

Status

Completed

Last Update Posted

Jun 24, 2005Estimated

Enrollment

180

Phase

Not provided

Conditions

Primary Ciliary Dyskinesia

Interventions

Not provided

Countries

United States

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

ID	Type	Description	Link
UNCCH-GCRC-1395

Status Module

Record Verification Date

Dec 2003

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

Feb 2000

Primary Completion Date

Not provided

Completion Date

Not provided

First Submitted Date

May 2, 2000

First Submission Date that Met QC Criteria

May 2, 2000

First Posted Date

May 3, 2000Estimated

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

Jun 23, 2005

Last Update Posted Date

Jun 24, 2005Estimated

Name	Class
University of North Carolina	OTHER

Description Module

Brief Summary

OBJECTIVES:

I. Characterize the clinical presentation of patients with primary ciliary dyskinesia.

II. Identify the genetic mutations associated with this disease.

Detailed Description

PROTOCOL OUTLINE:

Participants undergo a scrape biopsy acquisition of nasal cells for ciliary studies, a chest radiograph, sinus radiographs, lung function tests, sputum cultures, nitric oxide measurement, and an ear, nose and throat evaluation to screen for primary ciliary dyskinesia (PCD). Blood collection and/or a buccal scrape is also performed for genetic studies.

Genetic studies include molecular linkage analyses, genetic mapping, and gene mutation identification based on large deletions. Microsatellite markers are used to identify polymorphism.

Genetic counseling is provided to all participants.

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

No data available

No data is available for this block.

Enrollment

180

Eligibility Module

Eligibility Criteria

Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)
Family members of patients with PCD

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

0 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Peadar G. Noone	University of North Carolina	Study Chair

Locations

Facility	Status	City	State	ZIP	Country	Contacts
University of North Carolina School of Medicine		Chapel Hill	North Carolina	27599-7070	United States

Condition Browse Module

MeSH Terms

ID	Term
D002925	Ciliary Motility Disorders
D012140	Respiratory Tract Diseases
D030342	Genetic Diseases, Inborn
D035583	Rare Diseases

Ancestor Terms

ID	Term
D010038	Otorhinolaryngologic Diseases
D000072661	Ciliopathies
D000015	Abnormalities, Multiple
D000013	Congenital Abnormalities

Browse Leaves

Not provided

Browse Branches

Not provided