Genetic Study of Patients With Primary Ciliary Dyskinesia - Full Text View

Genetic Study of Patients With Primary Ciliary Dyskinesia

This study has been completed.

Sponsors and Collaborators:	National Center for Research Resources (NCRR) University of North Carolina
Information provided by:	National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:	NCT00005650

Purpose

OBJECTIVES:

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

II. Identify the genetic mutations associated with this disease.

Condition

Primary Ciliary Dyskinesia

U.S. FDA Resources

Study Type:	Observational
Study Design:	Natural History

Official Title:	Genetic Study of Patients With Primary Ciliary Dyskinesia

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment:	180
Study Start Date:	February 2000

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00005650

Locations


United States, North Carolina
	University of North Carolina School of Medicine
	Chapel Hill, North Carolina, United States, 27599-7070

Sponsors and Collaborators

National Center for Research Resources (NCRR)

University of North Carolina

Investigators


Study Chair:	Peadar G. Noone	University of North Carolina

More Information

Study ID Numbers:	NCRR-M01RR00046-1395, UNCCH-GCRC-1395
First Received:	May 2, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00005650
Health Authority:	United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):

cardiovascular and respiratory diseases

genetic diseases and dysmorphic syndromes

primary ciliary dyskinesia

rare disease

Study placed in the following topic categories:

Otorhinolaryngologic Diseases

Heart Diseases

Primary ciliary dyskinesia

Cardiovascular Abnormalities

Bronchiectasis

Respiration Disorders

Rare Diseases

Central Nervous System Diseases

Situs Inversus

Dyskinesias

Kartagener Syndrome

Dextrocardia

Kartagener syndrome

Situs inversus viscerum

Signs and Symptoms

Genetic Diseases, Inborn

Respiratory Tract Diseases

Movement Disorders

Ciliary Motility Disorders

Neurologic Manifestations

Congenital Abnormalities

Heart Defects, Congenital

Additional relevant MeSH terms:

Respiratory System Abnormalities

Bronchial Diseases

Nervous System Diseases

Cardiovascular Diseases

ClinicalTrials.gov processed this record on September 05, 2008