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

Sponsor

University of North Carolina, Chapel Hill (Other)

Overall Status

Completed

CT.gov ID

NCT00722878

Collaborator

National Heart, Lung, and Blood Institute (NHLBI) (NIH)

Enrollment

Locations

133

Duration (Months)

Patients Per Site

0.1

Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
Kartagener Syndrome

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 Design

Study Type:

Observational

Actual Enrollment :

48 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

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

Study Start Date :

Jul 1, 2008

Actual Primary Completion Date :

Aug 1, 2019

Actual Study Completion Date :

Aug 1, 2019

Outcome Measures

Primary Outcome Measures

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

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A to 4 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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

Locations

	Site	City	State	Country	Postal Code
1	Stanford University, Palo Alto	Palo Alto	California	United States	94304
2	The Children's Hospital, Denver	Denver	Colorado	United States	80045
3	Washington University in St. Louis	Saint Louis	Missouri	United States	63110
4	University of North Carolina, Chapel Hill	Chapel Hill	North Carolina	United States	27599
5	Children's Hospital and Regional Medical Center, Seattle	Seattle	Washington	United States	98105
6	The Hospital for Sick Children, Toronto	Toronto	Ontario	Canada