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Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents

This study is ongoing, but not recruiting participants.
Office of Rare Diseases (ORD)
National Center for Research Resources (NCRR)
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Margaret Leigh, MD, University of North Carolina, Chapel Hill Identifier:
First received: March 20, 2007
Last updated: September 7, 2016
Last verified: September 2016
Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can cause infections, are normally entrapped in mucus on the airway surfaces and then cleared out by the coordinated action of tiny hair-like structures called cilia. Individuals with primary ciliary dyskinesia (PCD) have defective mucociliary clearance, which in turn leads to lung infections and disease. The purpose of this study is to determine how lung disease progresses over time in children and adolescents with PCD.

Primary Ciliary Dyskinesia

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age

Resource links provided by NLM:

Further study details as provided by University of North Carolina, Chapel Hill:

Primary Outcome Measures:
  • Spirometry Measures [ Time Frame: Measured yearly for 5 years ]
  • HRCT scan of the chest to image lungs [ Time Frame: At visits 1, 3, and 5 ]

Biospecimen Retention:   Samples With DNA
Blood samples

Estimated Enrollment: 150
Study Start Date: August 2006
Estimated Study Completion Date: August 2019
Estimated Primary Completion Date: August 2019 (Final data collection date for primary outcome measure)
Detailed Description:

PCD is a rare genetic disorder in which impaired mucus clearance commonly results in chronic cough and infections in the airways, sinuses, and middle ears. Long lasting airway infection ultimately leads to structural damage to the airways, known as bronchiectasis, and, in turn, loss of lung function. While PCD shares some similarities with the disease cystic fibrosis, it is important to distinguish PCD from cystic fibrosis. In particular, the age of onset and progression of PCD's clinical lung disease, including timing of specific microbial pathogen infections and bronchiectasis, remain poorly defined. The purpose of this study is to determine how lung disease progresses over time in children and adolescents with PCD. Specific attention will be directed toward determining whether certain factors play a role in lung disease progression. The study will also evaluate diagnostic tools and quality of life among individuals with PCD. Filling these gaps of knowledge may help to improve the clinical management of PCD in the future.

This longitudinal study will last 5 years. There will be a total of 5 study visits, and these visits will occur yearly. Each study visit will last 3 to 4 hours. All study visits will include a medical history review; physical exam; height, weight, and vital sign measurements; sampling of respiratory fluids and mucus; lung function tests; and questionnaires. The initial visit may also include using a probe to measure nasal nitric oxide levels and blood collection for genetic testing. Study visits 1, 3, and 5 will also include blood collection for pregnancy testing and a high resolution computed tomography (HRCT) scan of the chest to image the lungs. At the end of each month, participants will report any use of oral, inhaled, or intravenous antibiotics.


Ages Eligible for Study:   5 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Children and adolescents with primary ciliary dyskinesia

Inclusion Criteria:

  • Diagnosis of PCD or probable PCD. More information about the criteria for a PCD diagnosis can be found in the protocol.
  • Parent or guardian willing to provide informed consent

Exclusion Criteria:

  • Inability to attend follow-up appointments
  • Previously received lung transplant
  • Any disease that may have significant impact on lung function (e.g., severe congenital heart disease, severe scoliosis), respiratory infections (e.g., AIDS), or overall health status (e.g., cancer, end-stage kidney disease)
  • Pregnant or breastfeeding
  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: NCT00450918

United States, California
Stanford University
Palo Alto, California, United States, 94304
United States, Colorado
The Children's Hospital
Denver, Colorado, United States, 80218
United States, Missouri
Washington University
St. Louis, Missouri, United States, 63130
United States, North Carolina
University of North Carolina at Chapel Hill
Chapel Hill, North Carolina, United States, 27599
United States, Washington
Children's Hospital and Regional Medical Center
Seattle, Washington, United States, 98105
Canada, Ontario
The Hospital for Sick Children
Toronto, Ontario, Canada
Sponsors and Collaborators
University of North Carolina, Chapel Hill
Office of Rare Diseases (ORD)
National Center for Research Resources (NCRR)
National Heart, Lung, and Blood Institute (NHLBI)
Principal Investigator: Margaret W Leigh, MD University of North Carolina, Chapel Hill
  More Information

Additional Information:

Responsible Party: Margaret Leigh, MD, Professor, University of North Carolina, Chapel Hill Identifier: NCT00450918     History of Changes
Other Study ID Numbers: RDCRN 5901
U54HL096458 ( US NIH Grant/Contract Award Number )
Study First Received: March 20, 2007
Last Updated: September 7, 2016

Keywords provided by University of North Carolina, Chapel Hill:
Kartagener Syndrome

Additional relevant MeSH terms:
Ciliary Motility Disorders
Movement Disorders
Central Nervous System Diseases
Nervous System Diseases
Respiratory Tract Diseases
Otorhinolaryngologic Diseases
Bronchial Diseases
Cardiovascular Diseases
Heart Diseases
Genetic Diseases, Inborn
Kartagener Syndrome
Neurologic Manifestations
Signs and Symptoms
Respiratory System Abnormalities
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities
Situs Inversus processed this record on May 25, 2017