iPCD: International Primary Ciliary Dyskinesia Cohort
Study Details
Study Description
Brief Summary
The iPCD Cohort is a retrospective international cohort that assembles available datasets with clinical and diagnostic data from patients suffering from primary ciliary dyskinesia (PCD) worldwide, to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments in patients with this rare multiorgan disease.
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Detailed Description
The iPCD Cohort was set up under the framework of the European Union (EU) funded 7th Framework Programme (FP7) project Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia (BESTCILIA). The iPCD Cohort is hosted at the Institute of Social and Preventive Medicine at the University of Bern, Switzerland. Research is performed in close collaboration with all data contributors.
Aims:
This combined international dataset allows investigation of PCD epidemiology in a large international study population in order to: 1) describe the spectrum of clinical phenotypes and disease severity in PCD patients by age, sex and time period of diagnosis; 2) describe short-term and long-term prognosis of PCD, looking at important outcomes such as growth, lung function and respiratory failure, bacterial colonisation, hearing loss, fertility, and mortality; and 3) identify predictors of long-term outcomes such as age at diagnosis, clinical phenotype, ultrastructural defects, genotype and clinical care.
Study design:
The iPCD Cohort is a retrospective international cohort, combining available data on PCD from national or local registries and clinical or diagnostic databases. All participating centres delivered retrospectively collected data; new centres joining the iPCD Cohort in the future can also participate with retrospectively collected data.
What information is collected:
The iPCD Cohort includes retrospectively collected patient data on the following 11 thematic categories: 1) general information, 2) results of diagnostic tests, 3) baseline characteristics, 4) growth and lung function, 5) clinical manifestations, 6) therapy, 7) microbiology, 8) imaging, 9) surgical interventions, 10) neonatal period, and 11) family history.
Study database:
The iPCD Cohort database is web-based, using the Research Electronic Data Capture (REDCap) platform developed at Vanderbilt University. REDCap is widely used in academic research and allows data entry and extraction in various formats.
How to participate:
Centres that wish to participate to the project and contribute data can contact the iPCD Cohort to sign a data delivery agreement. They then will receive a password to access the online software REDCap and they will be able to enter their data directly. They can also upload follow-up data or add additional patients at a later time point.
For further details, contact: pcd@ispm.unibe.ch
Funding:
The setting up of the iPCD Cohort (salaries, consumables and equipment) was funded by the EU FP7 project BESTCILIA (http://bestcilia.eu) and several Swiss funding bodies, including the Lung Leagues of Bern, St Gallen, Vaud, Ticino and Valais and the Milena Carvajal Pro-Kartagener Foundation. Data collection and management at each site was funded according to local arrangements. Most participating researchers and data contributors participate in the European Cooperation in Science and Technology (COST) Action "Better Evidence to Advance Therapeutic options for PCD" (BEAT-PCD) (BM 1407; www.beatpcd.org). Infrastructure is provided for free by the University of Bern, where the data are pooled and stored. The study is currently funded by the Swiss National Science Foundation (320030_173044 and 320030B_192804).
Study Design
Outcome Measures
Primary Outcome Measures
- Height [every 3 months up to 10 years]
Height z-scores calculated based on available national and international references
- BMI [every 3 months up to 10 years]
Body Mass Index (BMI) z-scores calculated based on available national and international references
- Lung function measurements [every 3 months up to 10 years]
Spirometric indices, particularly Forced expiratory volume in 1 sec (FEV1) and Forced vital capacity (FVC) z-scores calculated based on Global Lung Function Initiative (GLI) reference values
- Diagnostic test results [at diagnosis/ study entry]
Results of performed PCD diagnostic tests including measurement of nasal nitric oxide, electron microscopy findings, beat frequency and pattern.
- Clinical symptoms and signs [every 3 months up to 10 years]
Prevalence of reported clinical symptoms at different age groups, including rhinitis, cough, otitis, sinusitis, pneumonia, laterality defects, congenital heart disease and fertility problems.
- Microbiology results [every 3 months up to 10 years]
Results of microbiology cultures of respiratory samples (sputum, cough swabs, throat swabs, ear swabs, bronchoalveolar lavage) and information on antibiotic resistance (in positive cultures)
- Imaging results [every 3 months up to 10 years]
Radiological findings from sinus and lung imaging tests including x-rays, computed tomography and magnetic resonance imaging
Eligibility Criteria
Criteria
Inclusion Criteria:
Patients diagnosed with primary ciliary dyskinesia
Exclusion Criteria:
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University of Bern | Bern | Switzerland | 3012 |
Sponsors and Collaborators
- University of Bern
- European Commission
- Swiss National Science Foundation
- University of Southampton
- Pierre and Marie Curie University
- Bar-Ilan University, Israel
- University of Padova
- University Hospital, Gasthuisberg
- Oslo University Hospital
- Amsterdam UMC, location VUmc
- Royal Brompton & Harefield NHS Foundation Trust
- Marmara University
- Ruhr University of Bochum
- Genetic Disorders of Mucociliary Clearance Consortium
- Institute of Tuberculosis and Lung Disorders, Rabka Poland
- University of Sydney
- Copenhagen University Hospital, Denmark
- University Hospital Muenster
- Hannover Medical School
- Hospital de Niños R. Gutierrez de Buenos Aires
- University of Cyprus
- Medical Centre Dr Dragisa Misovic
- Hacettepe University
- University Hospital, Motol
- Clinica de neumologia pediatrica Compensar
- Attikon Hospital
- University of Leicester
Investigators
- Principal Investigator: Claudia E Kuehni, Prof, University of Bern
Study Documents (Full-Text)
None provided.More Information
Publications
- Halbeisen FS, Goutaki M, Spycher BD, Amirav I, Behan L, Boon M, Hogg C, Casaulta C, Crowley S, Haarman EG, Karadag B, Koerner-Rettberg C, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Omran H, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Lucas JS, Latzin P, Kuehni CE. Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study. Eur Respir J. 2018 Aug 23;52(2). pii: 1801040. doi: 10.1183/13993003.01040-2018. Print 2018 Aug.
- Halbeisen FS, Shoemark A, Barbato A, Boon M, Carr S, Crowley S, Hirst R, Karadag B, Koerner-Rettberg C, Loebinger MR, Lucas JS, Maitre B, Mazurek H, Özçelik U, Martinů V, Schwerk N, Thouvenin G, Tschanz SA, Yiallouros P, Goutaki M, Kuehni CE. Time trends in diagnostic testing for primary ciliary dyskinesia in Europe. Eur Respir J. 2019 Oct 24;54(4). pii: 1900528. doi: 10.1183/13993003.00528-2019. Print 2019 Oct.
- Kouis P, Goutaki M, Halbeisen FS, Gioti I, Middleton N, Amirav I; Israeli PCD Consortium, Barbato A; Italian PCD Consortium, Behan L, Boon M, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Lazor R; Swiss PCD Group, Loebinger MR, Maitre B; French Reference Centre for Rare Lung Diseases, Mazurek H, Morgan L, Nielsen KG, Omran H, Özçelik U, Price M, Pogorzelski A, Snijders D; PCD Italian Consortium, Thouvenin G; French Reference Centre for Rare Lung Diseases, Werner C, Zivkovic Z, Kuehni CE, Yiallouros PK. Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study. Respir Res. 2019 Sep 18;20(1):212. doi: 10.1186/s12931-019-1183-y.
- iPCD cohort