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Updated: Dec 19, 2025
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High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
Published on: January 19, 2022
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Registries and collaborative studies for primary ciliary dyskinesia in Europe
Cristina Ardura-Garcia1,2, Myrofora Goutaki1,2,3, Siobhán B Carr4,5
1Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
ERJ Open Research
|June 5, 2020
Summary
Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia. This review highlights European data resources, including national registries and international cohorts, crucial for advancing PCD research and understanding.
Area of Science:
- Rare inherited diseases
- Genetic disorders
- Ciliary function
Background:
- Primary ciliary dyskinesia (PCD) is a rare inherited disease with malfunctioning cilia, causing diverse symptoms across multiple organ systems.
- Significant gaps exist in clinical presentation, prognosis, and treatment effectiveness data for PCD, necessitating enhanced scientific evidence.
- Improving the evidence base is critical for better patient care and research in PCD.
Purpose of the Study:
- To review available European data resources for clinical and epidemiological research in Primary ciliary dyskinesia (PCD).
- To discuss the strengths, limitations, and future perspectives of these data resources.
- To identify key resources that can accelerate research and clinical understanding of PCD.
Main Methods:
- Review of established national PCD registries and cohort studies across Europe.
- Inclusion of data from large collaborative efforts: the international PCD (iPCD) Cohort and the International PCD Registry.
- Analysis of data from population-based registries in Denmark, Cyprus, Norway, and Switzerland, and multicenter studies in England and France.
Main Results:
- National registries exist in Denmark, Cyprus, Norway, and Switzerland; multicenter cohort studies are conducted in England and France.
- PCD prevalence is estimated at 3-7 per 100,000 children and 0.2-6 per 100,000 adults, based on registry data.
- The international PCD (iPCD) Cohort includes over 4000 patients, and the International PCD Registry is part of the ERN-LUNG network.
Conclusions:
- European data resources, including national registries and international collaborations, provide a robust foundation for PCD research.
- These standardized, contemporaneous data resources facilitate rapid answers to clinical and research questions in PCD.
- Continued development and utilization of these data resources are essential for advancing the understanding and management of Primary ciliary dyskinesia.
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