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Registries and collaborative studies for primary ciliary dyskinesia in Europe

Cristina Ardura-Garcia, Myrofora Goutaki, Siobhán B. Carr, Suzanne Crowley, Florian S. Halbeisen, Kim G. Nielsen, Petra Pennekamp, Johanna Raidt, Guillaume Thouvenin, Panayiotis K. Yiallouros, Heymut Omran, Claudia E. Kuehni
ERJ Open Research 2020 6: 00005-2020; DOI: 10.1183/23120541.00005-2020
Cristina Ardura-Garcia
1Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
2On behalf of the iPCD Cohort, Bern, Switzerland
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  • ORCID record for Cristina Ardura-Garcia
Myrofora Goutaki
1Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
2On behalf of the iPCD Cohort, Bern, Switzerland
3Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland
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Siobhán B. Carr
4Primary Ciliary Dyskinesia Centre, Dept of Paediatric Respiratory Medicine, Imperial College and Royal Brompton Hospital, London, UK
5On behalf of the English Paediatric PCD Management Service, London, UK
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Suzanne Crowley
6Paediatric Dept of Allergy and Lung Diseases, Oslo University Hospital, Oslo, Norway
7On behalf of the Norwegian PCD Registry, Oslo, Norway
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Florian S. Halbeisen
1Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
8On behalf of the Swiss PCD Registry, Bern, Switzerland
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Kim G. Nielsen
9Danish PCD Centre Copenhagen, Paediatric Pulmonary Service, Copenhagen University Hospital, Copenhagen, Denmark
10On behalf of the Danish PCD Registry, Copenhagen, Denmark
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Petra Pennekamp
11Dept of General Pediatrics, University Hospital Muenster, Muenster, Germany
12On behalf of the International PCD Registry Team, Muenster, Germany
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Johanna Raidt
11Dept of General Pediatrics, University Hospital Muenster, Muenster, Germany
12On behalf of the International PCD Registry Team, Muenster, Germany
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Guillaume Thouvenin
13Service de Pneumologie Pédiatrique, Hôpital Trousseau AP-HP, Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, CRSA, Paris, France
14Inserm UMR S 933 RaDiCo-PCD, Paris, France
15On behalf of the French RaDiCo-PCD Cohort, Paris, France
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Panayiotis K. Yiallouros
16Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus
17On behalf of the Cyprus PCD Registry, Nicosia, Cyprus
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Heymut Omran
11Dept of General Pediatrics, University Hospital Muenster, Muenster, Germany
12On behalf of the International PCD Registry Team, Muenster, Germany
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Claudia E. Kuehni
1Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
2On behalf of the iPCD Cohort, Bern, Switzerland
3Paediatric Respiratory Medicine, Children's University Hospital of Bern, University of Bern, Bern, Switzerland
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    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.

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  • TABLE 1

    Primary ciliary dyskinesia (PCD) registries or cohort studies in Europe with national or near-national coverage: characteristics and patient identification

    CharacteristicsInclusion criteria and informed consentPatient identificationFundingHost institution
    Danish PCD RegistryNational (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.dk
    Cyprus PCD RegistryNational (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/medical
    Swiss PCD RegistryNational (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.ch
    Norwegian PCD RegistryNational (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/nscf
    English Paediatric PCD Management ServiceNational (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 CohortNational (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-pcd

    ENT: 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) nTotal inhabitants in catchment area nProportion of patients per 100 000 inhabitants n
      Total0–19 years20–39 years≥40 yearsTotal0–19 years20–39 years≥40 yearsTotal0–19 years20–39 years≥40 years
      Danish PCD Registry1364961265 814 4611 296 8961 467 7593 049 8062.33.84.20.9
      Cyprus PCD Registry44141614864 236189 491273 657401 0885.17.45.93.5
      Swiss PCD Registry1395349378 419 5501 691 4662 250 5554 477 5291.73.12.20.8
      Norwegian PCD Registry91632445 295 6191 260 8931 422 3292 612 3971.75.01.70.2

      #: 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 RegistryCyprus PCD RegistrySwiss PCD RegistryNorwegian PCD RegistryEnglish Paediatric PCD Management ServiceFrench 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 CohortInternational PCD Registry
          Study designCohort study, collaborative datasetRegistry
          Year founded20132014
          Inclusion criteriaNational, collaborative or single-centre datasets of patients (any age) diagnosed and treated for PCDNational, collaborative or single-centre datasets of patients (any age) diagnosed and treated for PCD
          National legal and ethical requirements met by participating centreNational 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 recommendationsPatients 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 lawsEntering individual patients requires written informed consent by the patient or his/her legal guardian(s)
          Patients (2019) n3824920
          Participating countriesArgentina, Australia, Belgium, Canada, Colombia, Cyprus, Czech Republic, Denmark, France, Germany, Greece, Israel, Italy, Netherlands, Norway, Poland, Serbia, Spain, Switzerland, Turkey, UK, USAAustria, Belgium, Canada, Cyprus, Denmark, France, Greece, Germany, Italy, Netherlands, Slovakia, Spain, Switzerland, Turkey, UK, USA
          Prospective/retrospectiveRetrospective and prospectiveProspective (and retrospective)
          Type of dataPseudo-anonymisedPseudo-anonymised
          ClinicalTrials.gov identifierNCT03517865NCT02419365
          DatabaseREDCap databaseInternet-based data entry system; will be transferred to REDCap October 2019
          Easy data import and export in several formatsEasy data import and export in several formats
          Each collaborator has access to own dataEach collaborator has access to own data
          Basic data set is monitored for completeness, further items are currently checked manually for plausibility by experts
          FundingEU-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 institutionInstitute of Social and Preventive Medicine, University of Bern, Bern, Switzerland
          www.ispm.unibe.ch
          University Hospital Muenster, Westphalian University of Muenster, Muenster, Germany
          www.ukm.de
          www.pcdregistry.eu
          To contribute dataContact: pcd@ispm.unibe.chContact: PCDRegistry.eu@ukmuenster.de

          EU: European Union.

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          Registries and collaborative studies for primary ciliary dyskinesia in Europe
          Cristina Ardura-Garcia, Myrofora Goutaki, Siobhán B. Carr, Suzanne Crowley, Florian S. Halbeisen, Kim G. Nielsen, Petra Pennekamp, Johanna Raidt, Guillaume Thouvenin, Panayiotis K. Yiallouros, Heymut Omran, Claudia E. Kuehni
          ERJ Open Research Apr 2020, 6 (2) 00005-2020; DOI: 10.1183/23120541.00005-2020

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          Registries and collaborative studies for primary ciliary dyskinesia in Europe
          Cristina Ardura-Garcia, Myrofora Goutaki, Siobhán B. Carr, Suzanne Crowley, Florian S. Halbeisen, Kim G. Nielsen, Petra Pennekamp, Johanna Raidt, Guillaume Thouvenin, Panayiotis K. Yiallouros, Heymut Omran, Claudia E. Kuehni
          ERJ Open Research Apr 2020, 6 (2) 00005-2020; DOI: 10.1183/23120541.00005-2020
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            • National PCD registries or cohort studies in Europe
            • Collaborative studies: the iPCD Cohort and the International PCD Registry
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