Primary Ciliary Dyskinesia: An Epidemiological Exploration. Furthering our understanding of the burden of disease in PCD

Primary ciliary dyskinesia (PCD) is an underrecognized multisystem genetic disorder that is characterized by dysfunctional motile cilia and abnormal mucociliary clearance. In recent years, there have been significant advancements in the understanding of PCD including, but are not limited to, disease frequency estimates in specific ethnic groups and geographical regions, the expansion of diagnostic tests, phenotype/genotype associations and longitudinal lung function. However, PCD continues to be globally underrecognized, in part, due to the heterogeneous and non-specific clinical presentation, and the lack of a gold standard diagnostic test. There are also known limitations with lung function monitoring in PCD, in that spirometry, the most common lung function test, is known to be insensitive to the early stages of lung disease or clinical change. Ultimately, these challenges have impacted the breadth of PCD research relative to other airway diseases, limited available therapeutic options, and decreased interest from industry to conduct interventional trials in this patient population. Therefore, in my dissertation I fill these knowledge gaps by tackling various questions related to the burden of disease in PCD, by employing different clinical epidemiologic techniques.

Department dc:contributor.department

Dalla Lana School of Public Health

Year dc:date.issued

2025

Author dc:creator

• Wee, Wallace

Advisor dc:contributor.advisor

• Dell, Sharon D

• Biostatistics
• Case ascertainment
• Clinical epidemiology
• Functional imaging
• Pediatrics
• Primary ciliary dyskinesia

Handle dc:identifier.uri

https://hdl.handle.net/1807/144826

OAI identifier oai:identifier

oai:utoronto.scholaris.ca:1807/144826