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

NCT ID: NCT00722878

Last Updated: 2019-10-07

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 48 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2008-07-31
• Study Completion Date: 2019-08-31

Brief Summary

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.

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.

Conditions

Kartagener Syndrome

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

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)

• Maximum Eligible Age: 4 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role: collaborator

University of North Carolina, Chapel Hill

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Margaret W. Leigh, MD

Role: STUDY_CHAIR

University of North Carolina, Chapel Hill

Margaret Rosenfeld, MD, MPH

Role: STUDY_CHAIR

Seattle Children's Hospital

Stephanie Davis, MD

Role: STUDY_CHAIR

University of North Carolina, Chapel Hill

Locations

Stanford University, Palo Alto

Palo Alto, California, United States

The Children's Hospital, Denver

Denver, Colorado, United States

Washington University in St. Louis

St Louis, Missouri, United States

University of North Carolina, Chapel Hill

Chapel Hill, North Carolina, United States

Children's Hospital and Regional Medical Center, Seattle

Seattle, Washington, United States

The Hospital for Sick Children, Toronto

Toronto, Ontario, Canada

Countries

United States; Canada

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Other Identifiers

U54HL096458

Identifier Type: NIH

Identifier Source: secondary_id

View Link

RDCRN 5903

Identifier Type: OTHER

Identifier Source: secondary_id

08-0764

Identifier Type: -

Identifier Source: org_study_id