International Primary Ciliary Dyskinesia Cohort (iPCD)

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.

Study Overview

• Status: Recruiting
• Conditions: Primary Ciliary Dyskinesia; Kartagener Syndrome

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).

• Study Type: Observational
• Enrollment (Estimated): 5000

Contacts and Locations

• Study Contact: Name: Myrofora Goutaki, MD-PhD; Phone Number: 0041 316315973; Email: myrofora.goutaki@unibe.ch
• Study Contact Backup: Name: Claudia E Kuehni, Prof; Phone Number: 0041 316313507; Email: claudia.kuehni@unibe.ch

Study Locations

• Switzerland
  • Bern, Switzerland, 3012
    • Recruiting
    • University of Bern
    • Contact: Claudia E Kuehni, Prof; Email: claudia.kuehni@unibe.ch
    • Contact: Myrofora Goutaki, MD-PhD; Email: myrofora.goutaki@unibe.ch

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients of all ages diagnosed with PCD, followed in a PCD centre or other specialised clinic or registered in a national registry

Description

Inclusion Criteria:

Patients diagnosed with primary ciliary dyskinesia

Exclusion Criteria:

-

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Height	Height z-scores calculated based on available national and international references	every 3 months up to 10 years
BMI	Body Mass Index (BMI) z-scores calculated based on available national and international references	every 3 months up to 10 years
Lung function measurements	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	every 3 months up to 10 years
Diagnostic test results	Results of performed PCD diagnostic tests including measurement of nasal nitric oxide, electron microscopy findings, beat frequency and pattern.	at diagnosis/ study entry
Clinical symptoms and signs	Prevalence of reported clinical symptoms at different age groups, including rhinitis, cough, otitis, sinusitis, pneumonia, laterality defects, congenital heart disease and fertility problems.	every 3 months up to 10 years
Microbiology results	Results of microbiology cultures of respiratory samples (sputum, cough swabs, throat swabs, ear swabs, bronchoalveolar lavage) and information on antibiotic resistance (in positive cultures)	every 3 months up to 10 years
Imaging results	Radiological findings from sinus and lung imaging tests including x-rays, computed tomography and magnetic resonance imaging	every 3 months up to 10 years

Collaborators and Investigators

• Sponsor: University of Bern
• Collaborators: Hacettepe University; Oslo University Hospital; Hannover Medical School; Swiss National Science Foundation; University Hospital Muenster; University of Padova; University Hospital, Gasthuisberg; Marmara University; University of Southampton; Amsterdam UMC, location VUmc; Ruhr University of Bochum; University of Sydney; Pierre and Marie Curie University; Royal Brompton & Harefield NHS Foundation Trust; University of Leicester; European Commission; Copenhagen University Hospital, Denmark; Hospital de Niños R. Gutierrez de Buenos Aires; Bar-Ilan University, Israel; Attikon Hospital; University Hospital, Motol; University of Cyprus; Genetic Disorders of Mucociliary Clearance Consortium; Institute of Tuberculosis and Lung Disorders, Rabka Poland; Medical Centre Dr Dragisa Misovic; Clinica de neumologia pediatrica Compensar
• Investigators: Principal Investigator: Claudia E Kuehni, Prof, University of Bern

Publications and helpful links

General Publications

• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2013
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2030

Study Registration Dates

• First Submitted: April 5, 2018
• First Submitted That Met QC Criteria: April 24, 2018
• First Posted (Actual): May 8, 2018

Study Record Updates

• Last Update Posted (Actual): November 30, 2023
• Last Update Submitted That Met QC Criteria: November 29, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Heart Diseases; Cardiovascular Diseases; Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Bronchial Diseases; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Heart Defects, Congenital; Cardiovascular Abnormalities; Abnormalities, Multiple; Ciliopathies; Bronchiectasis; Respiratory System Abnormalities; Dextrocardia; Situs Inversus; Dyskinesias; Ciliary Motility Disorders; Kartagener Syndrome
• Other Study ID Numbers: iPCD cohort

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES

IPD Plan Description

Researchers wanting to use the iPCD Cohort dataset can propose a research topic and draft a concept sheet describing the planned analyses and publication. All concept sheets have to be approved by all participating centres contributing data to the proposed analysis under question. After the participating centres agree to contribute their data and sign a publication agreement, the iPCD cohort managing centre (University of Bern) will prepare a partial dataset for the proposed analysis and will work closely with the lead researchers offering methodological input and support. In case additional data is collected to complete the partial dataset for a specific project, this will be added to the iPCD Cohort to enrich it after each project.

For further details, contact: pcd@ispm.unibe.ch

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No