Genetic Study of Patients With Primary Ciliary Dyskinesia - Tabular View

Tracking Information

First Received Date ^ICMJE

May 2, 2000

Last Updated Date

June 23, 2005

Start Date ^ICMJE

February 2000

Primary Completion Date

Current Primary Outcome Measures ^ICMJE

Original Primary Outcome Measures ^ICMJE

Change History

Complete list of historical versions of study NCT00005650 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

Original Secondary Outcome Measures ^ICMJE

Descriptive Information

Brief Title ^ICMJE

Genetic Study of Patients With Primary Ciliary Dyskinesia

Official Title ^ICMJE

Genetic Study of Patients With Primary Ciliary Dyskinesia

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.

Study Phase

Study Type ^ICMJE

Observational

Study Design ^ICMJE

Natural History

Condition ^ICMJE

Primary Ciliary Dyskinesia

Intervention ^ICMJE

Study Arms / Comparison Groups

Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Completed

Enrollment ^ICMJE

180

Completion Date

Primary Completion Date

Eligibility Criteria ^ICMJE

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

Gender

Both

Ages

Accepts Healthy Volunteers

Contacts ^ICMJE

Contact information is only displayed when the study is recruiting subjects

Location Countries ^ICMJE

United States

Administrative Information

NCT ID ^ICMJE

NCT00005650

Responsible Party

Study ID Numbers ^ICMJE

NCRR-M01RR00046-1395, UNCCH-GCRC-1395

Study Sponsor ^ICMJE

National Center for Research Resources (NCRR)

Collaborators ^ICMJE

University of North Carolina

Investigators ^ICMJE

Study Chair:

Peadar G. Noone

University of North Carolina

Information Provided By

National Center for Research Resources (NCRR)

Verification Date

December 2003

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP