Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Margaret Leigh, MD, University of North Carolina, Chapel Hill
ClinicalTrials.gov Identifier:
First received: July 24, 2008
Last updated: December 17, 2014
Last verified: December 2014

Primary ciliary dyskinesia (PCD), also known as Kartagener syndrome, is a genetic disorder of the cilia, which are microscopic hair-like cells. Cilia work to keep the respiratory system clean by moving mucus that contains debris to the large airways, where it can be coughed out. People with PCD have cilia that do not move properly and therefore are not effective in cleaning the respiratory system. This study will determine when PCD starts and how it changes over time, specifically in terms of how well the lungs work, what germs grow in lung secretions, and how the lungs look on computed tomography (CT) scans.

Kartagener Syndrome

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age

Resource links provided by NLM:

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

Primary Outcome Measures:
  • Infant lung function [ Time Frame: Measured at initial study visit (for children under 3) ] [ Designated as safety issue: No ]
  • Spirometry measures [ Time Frame: Measured yearly for 5 years (after age of 3 years) ] [ Designated as safety issue: No ]
  • Respiratory cultures [ Time Frame: Measured yearly for 5 years ] [ Designated as safety issue: No ]
  • Chest CT scan results [ Time Frame: Measured at the initial study visit and at Years 3 and 5 ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Approximately 2 teaspoons of blood and a small amount of urine (if the child is able to urinate in a cup) will be collected and held at the specimen bank located at Denver Children's Hospital. These samples will be used to help identify markers that may predict the clinical course of PCD.

Estimated Enrollment: 48
Study Start Date: July 2008
Estimated Study Completion Date: August 2019
Estimated Primary Completion Date: August 2019 (Final data collection date for primary outcome measure)
Detailed Description:

PCD, or Kartagener syndrome, is a genetic disorder that causes hair-like cells called cilia to move improperly, or in some cases, not at all. Cilia are needed to help clear the respiratory system of pollutants. When they work properly, they move debris-filled mucus into the large airways, allowing the debris to be coughed out of the body. When the cilia do not work properly, the body cannot rid itself of debris and is left vulnerable to serious infections in the sinuses, ears, and lungs. Over time, repeated infections can lead to scarring and permanent obstruction of these body areas. This study will determine when PCD starts and how it changes over time, specifically in terms of how well the lungs work, what germs grow in lung secretions, and how the lungs look on CT scans. This research may lead to a better understanding of PCD and thereby help doctors improve clinical management of the disease.

Children in this study will attend six study visits over 5 years. At the first visit, parents will review their child's medical and cough history with doctors. Also at this visit, children will undergo a physical exam that will include measures of temperature, blood pressure, heart rate, respiration rate, and oxygen saturation level. Additional procedures will include collection of a respiratory mucus sample or a throat culture, measurement of nasal nitric oxide, collection of blood and urine for specimen banking, a CT scan, and lung function testing. Children younger than 3 years of age will undergo the scan and lung function test under sedation. Children older than 3 years of age will not receive sedation. CT scans will be performed at the initial visit and during the visits 3 and 5 for children older than 3. For children younger than 3 years, chest CT scans will be performed at the initial visit and during visits 4 and 6. Lung function tests and blood and urine collection may be repeated at some of the remaining yearly visits. Between yearly visits, parents will track on a calendar their children's use of oral, inhaled, and intravenous antibiotics.


Ages Eligible for Study:   up to 4 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Participants in this study will be children younger than 5 years of age who have been diagnosed with PCD as based on electron microscopy and/or presence of two known disease-causing gene mutations or for whom a diagnosis of PCD has been determined probable as based on clinical features and very low nasal nitric oxide (less than 60 nl/minute).


Inclusion Criteria:

  • Younger than 5 years of age
  • Diagnosis of PCD or probable PCD based on criteria listed above
  • Parent or legal guardian willing to give informed consent

Exclusion Criteria:

  • Unable to attend follow-up appointments
  • History of lung transplant
  • Any co-existing severe diseases that may have significant impact on lung function, respiratory infections, or overall health status (i.e., severe congenital heart disease, severe scoliosis, AIDS, cancer, or end-stage kidney disease)
  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 ClinicalTrials.gov identifier: NCT00722878

United States, California
Stanford University, Palo Alto
Palo Alto, California, United States, 94304
United States, Colorado
The Children's Hospital, Denver
Denver, Colorado, United States, 80045
United States, Missouri
Washington University in St. Louis
St. Louis, Missouri, United States, 63110
United States, North Carolina
University of North Carolina, Chapel Hill
Chapel Hill, North Carolina, United States, 27599
United States, Washington
Children's Hospital and Regional Medical Center, Seattle
Seattle, Washington, United States, 98105
Canada, Ontario
The Hospital for Sick Children, Toronto
Toronto, Ontario, Canada, M5G 1X8
Sponsors and Collaborators
University of North Carolina, Chapel Hill
Study Chair: Margaret W. Leigh, MD University of North Carolina, Chapel Hill
Study Chair: Margaret Rosenfeld, MD, MPH Seattle Children's Hospital
  More Information

Additional Information:

Responsible Party: Margaret Leigh, MD, Professor of Pediatrics, University of North Carolina, Chapel Hill
ClinicalTrials.gov Identifier: NCT00722878     History of Changes
Other Study ID Numbers: RDCRN 5903, U54-HL096458
Study First Received: July 24, 2008
Last Updated: December 17, 2014
Health Authority: United States: Federal Government
United States: Institutional Review Board

Keywords provided by University of North Carolina, Chapel Hill:
Primary Ciliary Dyskinesia

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

ClinicalTrials.gov processed this record on September 02, 2015