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NCT00005650 Clinical Trial

Genetic Study of Patients With Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia Clinical Trial

Official title:
Genetic Study of Patients With Primary Ciliary Dyskinesia

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT00005650
Other study ID # NCRR-M01RR00046-1395
Secondary ID UNCCH-GCRC-1395
Status Completed
Phase N/A
First received May 2, 2000
Last updated June 23, 2005
Start date February 2000

Study information
Verified date December 2003
Source National Center for Research Resources (NCRR)
Contact n/a
Is FDA regulated No
Health authority United States: Federal Government
Study type Observational

Clinical Trial Summary

OBJECTIVES:

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

II. Identify the genetic mutations associated with this disease.

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.

Recruitment information / eligibility
Status Completed
Enrollment 180
Est. completion date
Est. primary completion date
Accepts healthy volunteers No
Gender Both
Age group N/A and older
Eligibility - Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)

- Family members of patients with PCD

Study Design

Observational Model: Natural History

Related Conditions & MeSH terms

Locations
Country Name City State
United States University of North Carolina School of Medicine Chapel Hill North Carolina

Sponsors (2)
Lead Sponsor Collaborator
National Center for Research Resources (NCRR) University of North Carolina

Country where clinical trial is conducted

United States, 

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