Study of Genetic Causes and Clinical Features of Primary Ciliary Dyskinesia and Other Airway Genetic Disorders

What this Trial Is About

Researchers are investigating primary ciliary dyskinesia PCD, a genetic disorder causing defective mucociliary clearance in the lungs, which leads to life-shortening lung diseases. The study focuses on identifying genes essential for respiratory cilia function and understanding how genetic mutations affect ciliary structure and movement. The long-term goal is to better understand genetic variations that influence ciliary function and contribute to common airway diseases like asthma and chronic obstructive pulmonary disease. This observational study aims to discover new disease-causing mutations in PCD and correlate these with changes in ciliary ultrastructure, waveform, and beat frequency. Researchers examine patients with typical and atypical ciliary defects, including those with normal ultrastructure but abnormal function, using clinical features and genetic analysis. The project uses family studies and proteomics to find mutations in various ciliary components, improving diagnosis and understanding of the disease. Participants include people suspected of having PCD based on clinical signs and healthy volunteers related to confirmed PCD cases. The study involves clinical characterization and diagnostic evaluations but no interventional treatments. Researchers collect data on ciliary function and structure and genetic information to assess mutation impact. The study is ongoing and aims to enhance diagnosis and explore partial ciliary dysfunctions role in broader airway diseases, with a total duration extending to 2027.

Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease