PCD Expert Talk: Living with PCD study
For the latest results of the Living with PCD study from Andrea Fernandez Rodriguez and Myrona Goutaki.
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PCD expert talks: Understanding natural variability in lung function: insights from the PROVALF-PCD cohort
What is this session about?
The PROVALF-PCD (Prospective Observational Multicentre Study on Variability of Lung Function in Stable PCD Patients) study is a multicentre, longitudinal project designed to better understand how lung function naturally changes over time in people with PCD. The cohort includes 252 patients recruited from 19 centres across 12 countries, making it one of the largest collaborative efforts in this rare disease. Over the course of the study, we collected over 1,000 FEV1 measurements from patients in stable state, during routine clinical follow-up, spanning a period of 15 months.
The study examined the extent and patterns of natural changes in lung function within each person, when these changes can be considered physiologically relevant, and what this might mean for disease monitoring, treatment decisions, and clinical trial design. This talk will discuss how PROVALF-PCD provides insights that are relevant for patients, in understanding their own health journeys, for clinicians, in shaping management strategies, and for researchers, in designing future studies.
About the speakers:
Bruna Rubbo is a senior lecturer at the University of Southampton. She co-chaired ‘BEAT-PCD COST Action’ WP 4 Outcome measures from 2017 to 2019 and currently chairs BEAT-PCD WP5 Clinical Outcome Measures. Her research focuses on the epidemiology of PCD, including improving diagnosis, understanding genotype–phenotype relationships, and evaluating lung function and clinical outcomes, with the aim of advancing patient care and developing robust outcome measures for both clinical practice and research.
PCD expert talks: EPIC-PCD − focusing on the upper airways
What is this session about?
The EPIC-PCD (Ear-Nose-Throat Prospective International Cohort of Patients with PCD) study is an international initiative to better understand upper airway disease in PCD. Established by Prof Goutaki in 2020, EPIC-PCD currently includes over 500 patients of all ages from 15 centres in 11 countries. The study examines the manifestation of upper airway disease in different ages, its prognosis over lifetime, and its relationship with lower airway disease in patients with PCD. Integrated into routine clinical care, it collects standardised baseline and follow-up data both from clinical examinations and directly from patients or parents of children with PCD. The speakers will discuss the study’s setup, progress, key findings, and future plans.
About the speakers:
Myrona Goutaki is a professor of clinical epidemiology at the University of Bern. She is the principal investigator of the EPIC-PCD study and co-chair of BEAT-PCD. She also co-leads the Swiss PCD Registry and is the scientific coordinator of the Swiss rare disease registry. Her research focuses on the epidemiology of paediatric and rare respiratory diseases, with a particular emphasis on PCD. She leads several studies using both qualitative and quantitative approaches to address key questions raised by patients and the scientific community.
Vasiliki Gkatzou is a medical doctor with clinical experience in paediatrics and a master’s degree in biomedical engineering. She is currently a PhD candidate at the University of Bern and coordinates the EPIC-PCD study supervised by Prof Myrona Goutaki. Her research focuses on gathering valuable insights into the medical and surgical management of upper airway disease in patients with PCD.
