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Genetic Study of Patients With Primary Ciliary Dyskinesia

This study has been completed.
University of North Carolina
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: May 2, 2000
Last updated: June 23, 2005
Last verified: December 2003


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

II. Identify the genetic mutations associated with this disease.

Primary Ciliary Dyskinesia

Study Type: Observational
Study Design: Observational Model: Natural History
Official Title: Genetic Study of Patients With Primary Ciliary Dyskinesia

Resource links provided by NLM:

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

Estimated Enrollment: 180
Study Start Date: February 2000
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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
  • Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)
  • Family members of patients with PCD
  Contacts and Locations
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Please refer to this study by its identifier: 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
  More Information Identifier: NCT00005650     History of Changes
Other Study ID Numbers: NCRR-M01RR00046-1395
Study First Received: May 2, 2000
Last Updated: June 23, 2005

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
Bronchial Diseases
Respiratory System Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Congenital Abnormalities
Situs Inversus
Genetic Diseases, Inborn processed this record on September 21, 2017