Trial record 3 of 28 for:    primary ciliary dyskinesia

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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
  • Histologically or cytologically confirmed primary ciliary dyskinesia (PCD)
  • Family members of patients with PCD
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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  UNCCH-GCRC-1395 
Study First Received: May 2, 2000
Last Updated: June 23, 2005
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

Additional relevant MeSH terms:
Ciliary Motility Disorders
Kartagener Syndrome
Bronchial Diseases
Cardiovascular Abnormalities
Cardiovascular Diseases
Central Nervous System Diseases
Congenital Abnormalities
Genetic Diseases, Inborn
Heart Defects, Congenital
Heart Diseases
Movement Disorders
Nervous System Diseases
Neurologic Manifestations
Otorhinolaryngologic Diseases
Respiratory System Abnormalities
Respiratory Tract Diseases
Signs and Symptoms
Situs Inversus processed this record on April 27, 2016