AID-PCD: Assessing Immunofluorescence for Diagnosis of Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) causes microscopic hair-like projections called cilia to not function properly. Cilia sweep away germs that are breathed in but become trapped in mucous lining the airways. PCD causes frequent, severe sickness, which can require lung transplantation to prevent early death. Symptoms are seen at birth but diagnosis is frequently delayed due to problems with current tests. Electron Microscopy (EM) is one test for PCD, but only detects about 50-70% of cases. Genetic tests are more sensitive but we do not yet know all of the mutations that cause PCD, called Variants of Unknown Significance (VUSs). We recently created a new test for PCD using immunofluorescence (IF), which illuminates specific parts of cilia using a laser microscope. This test distinguished all PCD samples from healthy individuals. IF provides visual evidence that certain VUSs cause abnormal cilia. This test is also cheaper, faster and easier to interpret. Before IF can be used to diagnose PCD, we must show that it outperforms EM and genetic tests in a large group of patients from across Vancouver. This study will establish IF as a confirmatory PCD test, helping patients access personalized treatment and new gene-therapy clinical trials.