Genetic Study of Patients With Primary Ciliary Dyskinesia

This study has been completed.

First Received: May 2, 2000 Last Updated: June 23, 2005 History of Changes

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

Genetics Home Reference related topics: familial paroxysmal nonkinesigenic 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

No publications provided

Study ID Numbers:	NCRR-M01RR00046-1395, UNCCH-GCRC-1395
Study First Received:	May 2, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00005650 History of Changes
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:

Heart Diseases
Otorhinolaryngologic Diseases
Bronchial Diseases
Cardiovascular Abnormalities
Bronchiectasis
Respiration Disorders
Rare Diseases
Central Nervous System Diseases
Situs Inversus
Dyskinesias
Primary Ciliary Dyskinesia

Kartagener Syndrome
Dextrocardia
Signs and Symptoms
Genetic Diseases, Inborn
Respiratory Tract Diseases
Movement Disorders
Ciliary Motility Disorders
Neurologic Manifestations
Congenital Abnormalities
Heart Defects, Congenital
Situs Inversus Viscerum

Additional relevant MeSH terms:

Respiratory System Abnormalities
Otorhinolaryngologic Diseases
Heart Diseases
Bronchial Diseases
Cardiovascular Abnormalities
Bronchiectasis
Nervous System Diseases
Central Nervous System Diseases
Situs Inversus
Dyskinesias
Kartagener Syndrome

Dextrocardia
Signs and Symptoms
Genetic Diseases, Inborn
Respiratory Tract Diseases
Movement Disorders
Ciliary Motility Disorders
Neurologic Manifestations
Cardiovascular Diseases
Congenital Abnormalities
Heart Defects, Congenital

ClinicalTrials.gov processed this record on May 07, 2009