5903: Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age
Background
Primary Ciliary Dyskinesia (PCD) is a genetic defect in airway host-defense, and typically results in chronic infection of the airways. Patients with PCD have chronic lung, sinus and ear infections. This longitudinal study is designed to define the rate of progression of PCD lung function in participants prior to 10 years of age using special lung function tests, which helped to track lung impairment and prognosis in other disorders of the airways such as cystic fibrosis. This longitudinal protocol will also systematically track other specific outcomes, including pathogens infecting the airways (assessed by respiratory cultures), and age at onset and progression of airway damage and bronchiectasis (assessed by high-resolution computerized tomography, HRCT, of the chest).
About this Study
Participants will be recruited from the pool of patients evaluated at the 6 participating centers. It is anticipated that most participants will have already participated in one of our other protocols, "Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests" and will have a completely defined diagnosis including definition of ultrastructural defect and genotype analysis. Some may come from centers other than our 6 research centers with well-established diagnoses. Subjects will have up to 6 visits once a year for about five years. About 48 subjects at five centers in the United States and one in Canada will take part in this study. At each of the visits, medical history and physical examination will be performed by the study team. A respiratory culture will also be obtained at each visit. Other special tests will occur including a nitric oxide nasal gas measurement, which helps to define the disease. Blood and urine will be collected in some subjects. The HRCT of the chest will occur at every other visit and modified lung function testing will take place at most visits.
Targeted Enrollment
To be eligible to participate, you must:
- Be less than 5 years of age and diagnosed with PCD
OR - Be less than 5 years of age and diagnosed with “probable” PCD
- Be able to give informed consent
You are not eligible to participate if:
- You are not able to keep follow-up appointments
- You have had a lung transplant
- You have severe chronic diseases (heart disease, curvature of the spine, other lung conditions, or other diseases that affect general health)
- If the child is less than 3 years of age and has the following conditions:
- History of bad reactions to sedation
- Floppy upper airway
- Severe stomach reflux
- Seizure disorder
- Less than 17 weeks of age