Summary
This longitudinal study is designed to define the rate of progression of PCD lung function in participants between 5-18 years of age using spirometry, which tracks well with 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).
Target Enrollment
Participants will be recruited from the pool of patients evaluated at the 4 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 4 research centers with well-established diagnoses. It will be required that the same diagnostic criteria be fulfilled as stated in our Cross-Sectional protocol: PCD - compatible clinical phenotype (key clinical features of chronic sinopulmonary disease and/or neonatal respiratory disorder + situs inversus) plus defect in ciliary ultrastructure (inner or outer dynein arm; radial spoke; central complex). Eligibility criteria includes: Individuals 5-18 years of age with confirmed diagnosis of PCD (based on criteria above) and individuals 5-18 years of age with "probable" PCD (based on criteria above). It is estimated that a total enrollment of approximately 150 individuals with PCD who are between 5 and 18 years of age will be enrolled.