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

October 3, 2019 updated by: University of North Carolina, Chapel Hill

Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

48

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Canada
    • Ontario
      • Toronto, Ontario, Canada
        • The Hospital for Sick Children, Toronto
  • United States
    • California
      • Palo Alto, California, United States, 94304
        • Stanford University, Palo Alto
    • Colorado
      • Denver, Colorado, United States, 80045
        • The Children's Hospital, Denver
    • Missouri
      • Saint Louis, Missouri, United States, 63110
        • Washington University in St. Louis
    • North Carolina
      • Chapel Hill, North Carolina, United States, 27599
        • University of North Carolina, Chapel Hill
    • Washington
      • Seattle, Washington, United States, 98105
        • Children's Hospital and Regional Medical Center, Seattle

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 4 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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).

Description

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)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Infant lung function
Time Frame: Measured at initial study visit (for children under 3)
Measured at initial study visit (for children under 3)
Spirometry measures
Time Frame: Measured yearly for 5 years (after age of 3 years)
Measured yearly for 5 years (after age of 3 years)
Respiratory cultures
Time Frame: Measured yearly for 5 years
Measured yearly for 5 years
Chest CT scan results
Time Frame: Measured at the initial study visit and at Years 3 and 5
Measured at the initial study visit and at Years 3 and 5

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of North Carolina, Chapel Hill

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Investigators

  • Study Chair: Margaret W. Leigh, MD, University of North Carolina, Chapel Hill
  • Study Chair: Margaret Rosenfeld, MD, MPH, Seattle Children's Hospital
  • Study Chair: Stephanie Davis, MD, University of North Carolina, Chapel Hill

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2008

Primary Completion (Actual)

August 1, 2019

Study Completion (Actual)

August 1, 2019

Study Registration Dates

First Submitted

July 24, 2008

First Submitted That Met QC Criteria

July 24, 2008

First Posted (Estimate)

July 28, 2008

Study Record Updates

Last Update Posted (Actual)

October 7, 2019

Last Update Submitted That Met QC Criteria

October 3, 2019

Last Verified

October 1, 2019

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 08-0764
  • U54HL096458 (U.S. NIH Grant/Contract)
  • RDCRN 5903 (Other Identifier: UNC)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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