Genetic Study of Patients With Primary Ciliary Dyskinesia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00005650
Recruitment Status : Completed
First Posted : May 3, 2000
Last Update Posted : June 24, 2005
University of North Carolina
Information provided by:
National Center for Research Resources (NCRR)

Brief Summary:


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

II. Identify the genetic mutations associated with this disease.

Condition or disease
Primary Ciliary Dyskinesia

Detailed Description:


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 Type : Observational
Enrollment : 180 participants
Observational Model: Natural History
Official Title: Genetic Study of Patients With Primary Ciliary Dyskinesia
Study Start Date : February 2000

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)
  • Family members of patients with PCD

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00005650

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
Study Chair: Peadar G. Noone University of North Carolina Identifier: NCT00005650     History of Changes
Other Study ID Numbers: NCRR-M01RR00046-1395
First Posted: May 3, 2000    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: December 2003

Keywords provided by National Center for Research Resources (NCRR):
cardiovascular and respiratory diseases
genetic diseases and dysmorphic syndromes
primary ciliary dyskinesia
rare disease

Additional relevant MeSH terms:
Ciliary Motility Disorders
Kartagener Syndrome
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Neurologic Manifestations
Signs and Symptoms
Respiratory Tract Diseases
Otorhinolaryngologic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn
Bronchial Diseases
Respiratory System Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Situs Inversus