About Primary Ciliary Dyskinesia
Primary ciliary dyskinesia is a genetically heterogeneous disorder caused by defects in the structure or function of motile cilia, impairing mucociliary clearance throughout the airways, sinuses, and reproductive tract. Approximately 50% of patients have situs inversus (Kartagener syndrome) due to randomised organ lateralisation during embryogenesis. The disease leads to chronic sino-pulmonary infections and progressive bronchiectasis if not managed aggressively.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Primary Ciliary Dyskinesia trials.
Genetic confirmation or nasal nitric oxide measurement below accepted thresholds is commonly required for enrolment; gather diagnostic test results before applying.
Many trials stratify by specific gene mutation (e.g., DNAI1 vs. DNAH5); confirm your genotype with a certified genetics laboratory.
Some studies require a stable pulmonary status for 4–6 weeks prior to enrolment, so avoid applying during an active exacerbation.
Patient Resources
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