Figures
- FIGURE 1
Countries in Europe with established national population-based registries or multicentre cohort studies and data flow between them and the international primary ciliary dyskinesia (iPCD) Cohort and the International PCD Registry. Yellow ovals: clinical cohorts; green ovals: population-based registries; black continuous lines: data contribution; black dashed lines: data sharing and collaborations; black stars: other European countries that contribute data to the International PCD Registry; black circles: other European countries that contribute data to the iPCD Cohort.
Tables
- TABLE 1
Primary ciliary dyskinesia (PCD) registries or cohort studies in Europe with national or near-national coverage: characteristics and patient identification
Characteristics Inclusion criteria and informed consent Patient identification Funding Host institution Danish PCD Registry National (Denmark), population based. Founded 2006. Inhabitants of Denmark with definite, highly likely or suspected PCD. Written informed consent needed. Passive, patients who are referred to the national PCD centre for diagnostic work-up or clinical management. Hospital based, but various funds have supported part-time management. Paediatric Pulmonary Service, Dept of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
www.dblc.dkCyprus PCD Registry National (Cyprus), population based. Founded 2013. Inhabitants of Cyprus and neighbouring countries diagnosed or followed-up in Cyprus. Written informed consent needed. Passive, patients who are referred to the national PCD centre for diagnostic work-up or clinical management. National research funding (Cyprus Research Promotion Foundation). Medical School, University of Cyprus, Nicosia, Cyprus.
www.ucy.ac.cy/medicalSwiss PCD Registry National (Switzerland), population based. Founded 2013. Inhabitants of Switzerland with definite, highly likely or suspected PCD. Written informed consent needed. Active, by contacting regularly all specialists (paediatric and adult pulmonologists, ENT physicians, and fertility specialists) and the national patient organisation. Swiss National Science Foundation, cantonal lung leagues, Foundation Milena Carvajal. Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
www.ispm.chNorwegian PCD Registry National (Norway), population based. Founded 2015. Inhabitants of Norway with definite or highly likely PCD. Baseline data without informed consent; written informed consent needed to share data. Passive, by inclusion of patients referred with suspected PCD. Active from September 2019, by contacting regularly all specialists (paediatric and adult pulmonologists, ENT physicians, and fertility specialists). National Advisory Unit on Rare Diseases. Norwegian Resource Centre for Cystic Fibrosis. Norwegian Resource Centre for Cystic Fibrosis, Oslo, Norway.
www.oslo-universitetssykehus.no/nscfEnglish Paediatric PCD Management Service National (England), clinical cohort. Founded 2012. Inhabitants of England, aged 0–17 years with definite or highly likely PCD. Written informed consent needed. Through the National PCD Diagnostic Service, comprised of three centres.# National Health Service (NHS) England. National PCD Service; each centre is owner of their patients' data.# French RaDiCo-PCD Cohort National (France), clinical cohort. Founded 2017. Inhabitants of France with definite PCD. Written informed consent needed. Active, by contacting regularly all specialists (paediatric and adult pulmonologists, ENT physicians, and fertility specialists) and the national patient organisation. French National Research Agency under the specific programme “Investments for the Future”. Inserm UMR S 933 RaDiCo-PCD, Paris, France.
www.radico.fr/fr/connaitre-radico/nos-cohortes-et-autres-programmes-associes/80-radico/147-cohorte-radico-pcdENT: ear, nose and throat. #: University Hospital Southampton NHS Foundation Trust, Southampton, UK/Royal Brompton and Harefield Foundation Trust, London, UK; University Hospitals of Leicester NHS Trust, Leicester, UK/Birmingham Children's Hospital, Birmingham, UK; Leeds Teaching Hospitals NHS Trust, Leeds, UK/Bradford Teaching Hospitals NHS Trust, Bradford, UK.
- TABLE 2
Primary ciliary dyskinesia (PCD) population-based registries in Europe with national or near-national coverage: number of patients diagnosed and registered, and estimated prevalence#
Resident patients diagnosed with PCD (2019) n Total inhabitants in catchment area n Proportion of patients per 100 000 inhabitants n Total 0–19 years 20–39 years ≥40 years Total 0–19 years 20–39 years ≥40 years Total 0–19 years 20–39 years ≥40 years Danish PCD Registry 136 49 61 26 5 814 461 1 296 896 1 467 759 3 049 806 2.3 3.8 4.2 0.9 Cyprus PCD Registry 44 14 16 14 864 236 189 491 273 657 401 088 5.1 7.4 5.9 3.5 Swiss PCD Registry 139 53 49 37 8 419 550 1 691 466 2 250 555 4 477 529 1.7 3.1 2.2 0.8 Norwegian PCD Registry 91 63 24 4 5 295 619 1 260 893 1 422 329 2 612 397 1.7 5.0 1.7 0.2 #: prevalence was estimated by dividing the number of resident patients diagnosed with PCD by the total inhabitants in the catchment area, for each category and the total.
- TABLE 3
Primary ciliary dyskinesia (PCD) registries or cohort studies in Europe with national or near-national coverage: data collection and contribution
Danish PCD Registry Cyprus PCD Registry Swiss PCD Registry Norwegian PCD Registry English Paediatric PCD Management Service French RaDiCo-PCD Cohort Collection of baseline data Extraction from patient records ✓ ✓ ✓ ✓ ✓ Results of diagnostic tests from national PCD service ✓ ✓ ✓ ✓ Standardised form (FOLLOW-PCD) completed prospectively during visits ✓ (Oct 2019) ✓ (Jan 2004) ✓ (Oct 2019) ✓ (Oct 2019) ✓ Collection of follow-up data
Periodic data collection from patient records
✓ ✓ ✓ ✓ ✓ Annual or 3-monthly review assessments
✓ ✓ ✓ ✓ Standardised follow-up form (FOLLOW-PCD)
✓ (Oct 2019) ✓ ✓ (Oct 2019) ✓ Questionnaire to patients
✓ (Oct 2019) ✓ (Oct 2019) ✓ (2020) Type of data collected
Diagnostic information
✓ ✓ ✓ ✓ ✓ ✓ Clinical examinations
✓ ✓ ✓ ✓ ✓ ✓ Lung function tests
✓ ✓ ✓ ✓ ✓ ✓ Audiology
✓ ✓ ✓ ✓ ✓ Imaging
✓ ✓ ✓ ✓ ✓ ✓ Microbiological results
✓ ✓ ✓ ✓ ✓ ✓ Blood tests (e.g. liver function, immune profiling)
✓ ✓ ✓ Medical and surgical treatments
✓ ✓ ✓ ✓ ✓ ✓ Patient-reported data
✓ (Oct 2019) ✓ ✓ ✓ ✓ ✓ Annual QOL-PCD questionnaire
✓ (Oct 2019) ✓ (Oct 2019) ✓ (2020) ✓ ✓ National patient surveys
✓ Linkage with routine statistics
National mortality registry
On request ✓ ✓ National birth/neonatal registry
On request ✓ ✓ Census data
On request ✓ Hospital episode statistics
On request ✓ (planned) On request Congenital heart disease registry
✓ On request Contributes to
iPCD Cohort
✓ ✓ ✓ ✓ ✓ ✓ International PCD RegistryNational Rare Disease Registry
✓ ✓ ✓✓ ✓ (Sept 2019) ✓ ✓✓ QOL: quality of life.
- TABLE 4
International PCD (iPCD) Cohort and International PCD Registry: characteristics and methods
iPCD Cohort International PCD Registry Study design Cohort study, collaborative dataset Registry Year founded 2013 2014 Inclusion criteria National, collaborative or single-centre datasets of patients (any age) diagnosed and treated for PCD National, collaborative or single-centre datasets of patients (any age) diagnosed and treated for PCD National legal and ethical requirements met by participating centre National legal and ethical requirements met by participating centre Both cross-sectional and longitudinal datasets accepted (longitudinal encouraged) Patients with probable or confirmed PCD diagnosis who are treated as PCD in the participating centres, ranging from clinical presentation consistent with PCD to diagnosis established with several PCD diagnostic tests based on the European Respiratory Society diagnostic recommendations Patients with a confirmed PCD diagnosis fulfilling the following diagnostic criteria: clinical presentation consistent with PCD and consistent findings specific for PCD by at least two methods (high-frequency video microscopy analysis, transmission electron microscopy, immunofluorescence microscopy and low nasal nitric oxide concentration/production or biallelic disease-causing mutations by genotyping) Written informed consent needed for prospective data, depending on national laws Entering individual patients requires written informed consent by the patient or his/her legal guardian(s) Patients (2019) n 3824 920 Participating countries Argentina, Australia, Belgium, Canada, Colombia, Cyprus, Czech Republic, Denmark, France, Germany, Greece, Israel, Italy, Netherlands, Norway, Poland, Serbia, Spain, Switzerland, Turkey, UK, USA Austria, Belgium, Canada, Cyprus, Denmark, France, Greece, Germany, Italy, Netherlands, Slovakia, Spain, Switzerland, Turkey, UK, USA Prospective/retrospective Retrospective and prospective Prospective (and retrospective) Type of data Pseudo-anonymised Pseudo-anonymised ClinicalTrials.gov identifier NCT03517865 NCT02419365 Database REDCap database Internet-based data entry system; will be transferred to REDCap October 2019 Easy data import and export in several formats Easy data import and export in several formats Each collaborator has access to own data Each collaborator has access to own data Basic data set is monitored for completeness, further items are currently checked manually for plausibility by experts Funding EU-funded BESTCILIA project (FP7/2007–2013) under grant agreement 305404, Swiss National Science Foundation 320030_173044, Pro-Kartagener Foundation Milena Karvajal and institutional funding EU-funded BESTCILIA project (FP7/2007–2013) under grant agreement 305404, Eva Luise Köhler Research Award, Care-for-Rare Science Award, REGISTRY WAREHOUSE (Horizon 2020, grant agreement 777295), DFG CRU326 (OM6/11) and institutional funding
Host institution Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
www.ispm.unibe.chUniversity Hospital Muenster, Westphalian University of Muenster, Muenster, Germany
www.ukm.de
www.pcdregistry.euTo contribute data Contact: pcd@ispm.unibe.ch Contact: PCDRegistry.eu@ukmuenster.de EU: European Union.
Supplementary Material
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Supplementary material 00005-2020.SUPPLEMENT
