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

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.

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)