Primary ciliary dyskinesia (PCD) is a rare genetic multiorgan disease that affects multiple organ systems, primarily upper and lower airways. While lower airway disease has been extensively studied over the past years, upper airway disease remains a significant but less explored contributor to disease burden and reduced quality of life in people with PCD. To better understand the impact of upper airway disease in PCD, we established the EPIC-PCD cohort in 2020, funded by an Ambizione fellowship by the Swiss National Science Foundation.
EPIC-PCD is the first international, prospective, multicentre cohort study focusing on ear, nose, and throat (ENT) disease in PCD and the largest prospective clinical cohort of patients with PCD in general. It currently includes more than 600 patients from 16 PCD specialist centres from 11 different countries around the world and continues to grow. EPIC-PCD aims to characterise ENT disease in PCD patients of all ages and its association with lower airway disease, study its natural course, and identify determinants of disease prognosis. The study is hosted at ISPM Bern and is embedded in routine clinical care across participating specialist centres. It collects detailed patient and parental reported information on symptoms, health-related behaviours and quality of life, as well as clinical information on diagnostic tests, ENT examinations, and management, all collected using standardised and disease-specific instruments. Since its establishment, the EPIC-PCD cohort has generated important scientific outputs on the epidemiology and clinical spectrum of upper airway disease in PCD and has served as basis for several international research collaborations.
The study is currently funded by the Swiss National Science Foundation (SNSF 10001934) and the Swiss Lung Association (SLA 2024-01_ Goutaki). We share our news on the PCD Research Team ISPM LinkedIn https://www.linkedin.com/company/pcd-ispm/
Please note that only members of staff of ISPM Bern are listed.
