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Active, Not Recruiting

NCT Number: NCT03517865

International Primary Ciliary Dyskinesia Cohort

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Primary Ciliary Dyskinesia Abnormalities, Multiple Bronchial Diseases Bronchiectasis Cardiovascular Abnormalities Cardiovascular Diseases Ciliary Motility Disorders Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dextrocardia Genetic Diseases, Inborn Heart Defects, Congenital Heart Diseases Kartagener Syndrome Otorhinolaryngologic Diseases Respiratory System Abnormalities Respiratory Tract Diseases Situs Inversus

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Bern

Bern, 3012, Switzerland

About this study

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: [email protected]

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).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patients diagnosed with primary ciliary dyskinesia

Exclusion criteria

-

Treatment and study plan

Primary outcomes

  1. Height

    Time frame: every 3 months up to 10 years

    Height z-scores calculated based on available national and international references

  2. BMI

    Time frame: every 3 months up to 10 years

    Body Mass Index (BMI) z-scores calculated based on available national and international references

  3. Lung function measurements

    Time frame: 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

  4. Diagnostic test results

    Time frame: at diagnosis/ study entry

    Results of performed PCD diagnostic tests including measurement of nasal nitric oxide, electron microscopy findings, beat frequency and pattern.

  5. Clinical symptoms and signs

    Time frame: 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.

  6. Microbiology results

    Time frame: 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)

  7. Imaging results

    Time frame: every 3 months up to 10 years

    Radiological findings from sinus and lung imaging tests including x-rays, computed tomography and magnetic resonance imaging

Sponsors and collaborators

Lead sponsor

University of Bern

Other

Collaborators

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

Registry information

Acronym: iPCD

Important dates

Study start
2013
Primary completion
2050
Study completion
2080
First posted
May 8, 2018
Registry last updated
Nov 25, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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