International Primary Ciliary Dyskinesia Cohort

NCT ID: NCT03517865

Last Updated: 2025-11-25

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 3400 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2013-01-31
• Study Completion Date: 2080-12-31

Brief Summary

The iPCD Cohort is an international cohort that assembles available retrospective datasets and prospectively newly collected 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.

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 an 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 and prospectively 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).

Conditions

Primary Ciliary Dyskinesia; Kartagener Syndrome

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: OTHER

Eligibility Criteria

Inclusion Criteria

Patients diagnosed with primary ciliary dyskinesia

Exclusion Criteria

-

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

European Commission

OTHER

Sponsor Role: collaborator

Swiss National Science Foundation

OTHER

Sponsor Role: collaborator

University of Southampton

OTHER

Sponsor Role: collaborator

Pierre and Marie Curie University

OTHER

Sponsor Role: collaborator

Bar-Ilan University, Israel

OTHER

Sponsor Role: collaborator

University of Padova

OTHER

Sponsor Role: collaborator

University Hospital, Gasthuisberg

OTHER

Sponsor Role: collaborator

Oslo University Hospital

OTHER

Sponsor Role: collaborator

Amsterdam UMC, location VUmc

OTHER

Sponsor Role: collaborator

Royal Brompton & Harefield NHS Foundation Trust

OTHER

Sponsor Role: collaborator

Marmara University

OTHER

Sponsor Role: collaborator

Ruhr University of Bochum

OTHER

Sponsor Role: collaborator

Genetic Disorders of Mucociliary Clearance Consortium

UNKNOWN

Sponsor Role: collaborator

Institute of Tuberculosis and Lung Disorders, Rabka Poland

UNKNOWN

Sponsor Role: collaborator

University of Sydney

OTHER

Sponsor Role: collaborator

Copenhagen University Hospital, Denmark

OTHER

Sponsor Role: collaborator

University Hospital Muenster

OTHER

Sponsor Role: collaborator

Hannover Medical School

OTHER

Sponsor Role: collaborator

Hospital de Niños R. Gutierrez de Buenos Aires

OTHER

Sponsor Role: collaborator

University of Cyprus

OTHER

Sponsor Role: collaborator

Medical Centre Dr Dragisa Misovic

UNKNOWN

Sponsor Role: collaborator

Hacettepe University

OTHER

Sponsor Role: collaborator

University Hospital, Motol

OTHER

Sponsor Role: collaborator

Clinica de neumologia pediatrica Compensar

UNKNOWN

Sponsor Role: collaborator

Attikon Hospital

OTHER

Sponsor Role: collaborator

University of Leicester

OTHER

Sponsor Role: collaborator

University of Bern

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Claudia E Kuehni, Prof

Role: PRINCIPAL_INVESTIGATOR

University of Bern

Locations

University of Bern

Bern, , Switzerland

Countries

Switzerland

References

Goutaki M, Maurer E, Halbeisen FS, Amirav I, Barbato A, Behan L, Boon M, Casaulta C, Clement A, Crowley S, Haarman E, Hogg C, Karadag B, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Omran H, Schwerk N, Scigliano S, Werner C, Yiallouros P, Zivkovic Z, Lucas JS, Kuehni CE; PCD Italian Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases; Genetic Disorders of Mucociliary Clearance Consortium. The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. Eur Respir J. 2017 Jan 4;49(1):1601181. doi: 10.1183/13993003.01181-2016. Print 2017 Jan.

Reference Type: RESULT

PMID: 28052956 (View on PubMed)

Goutaki M, Halbeisen FS, Spycher BD, Maurer E, Belle F, Amirav I, Behan L, Boon M, Carr S, Casaulta C, Clement A, Crowley S, Dell S, Ferkol T, Haarman EG, Karadag B, Knowles M, Koerner-Rettberg C, Leigh MW, Loebinger MR, Mazurek H, Morgan L, Nielsen KG, Phillipsen M, Sagel SD, Santamaria F, Schwerk N, Yiallouros P, Lucas JS, Kuehni CE; PCD Israeli Consortium; Swiss PCD Group; French Reference Centre for Rare Lung Diseases. Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. Eur Respir J. 2017 Dec 21;50(6):1701659. doi: 10.1183/13993003.01659-2017. Print 2017 Dec.

Reference Type: RESULT

PMID: 29269581 (View on PubMed)

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):1801040. doi: 10.1183/13993003.01040-2018. Print 2018 Aug.

Reference Type: RESULT

PMID: 30049738 (View on PubMed)

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, Ozcelik U, Martinu 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):1900528. doi: 10.1183/13993003.00528-2019. Print 2019 Oct. No abstract available.

Reference Type: RESULT

PMID: 31273043 (View on PubMed)

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, Ozcelik 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.

Reference Type: RESULT

PMID: 31533829 (View on PubMed)

Goutaki M, Halbeisen FS, Barbato A, Crowley S, Harris A, Hirst RA, Karadag B, Martinu V, Morgan L, O'Callaghan C, Ozcelik U, Scigliano S, Ucros S, Yiallouros P, Schulzke SM, Kuehni CE. Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress. J Clin Med. 2020 Sep 4;9(9):2871. doi: 10.3390/jcm9092871.

Reference Type: RESULT

PMID: 32899853 (View on PubMed)

Halbeisen FS, Pedersen ESL, Goutaki M, Spycher BD, Amirav I, Boon M, Cohen-Cymberknoh M, Crowley S, Emiralioglu N, Haarman EG, Karadag B, Koerner-Rettberg C, Latzin P, Loebinger MR, Lucas JS, Mazurek H, Morgan L, Marthin J, Pohunek P, Santamaria F, Schwerk N, Thouvenin G, Yiallouros P, Nielsen KG, Kuehni CE. Lung function from school age to adulthood in primary ciliary dyskinesia. Eur Respir J. 2022 Oct 20;60(4):2101918. doi: 10.1183/13993003.01918-2021. Print 2022 Oct.

Reference Type: RESULT

PMID: 35301251 (View on PubMed)

Other Identifiers

iPCD cohort

Identifier Type: -

Identifier Source: org_study_id