NCT03517865

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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
3,400

participants targeted

Target at P75+ for all trials

Timeline
665mo left

Started Jan 2013

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress20%
Jan 2013Dec 2080

Study Start

First participant enrolled

January 1, 2013

Completed
5.3 years until next milestone

First Submitted

Initial submission to the registry

April 5, 2018

Completed
1 month until next milestone

First Posted

Study publicly available on registry

May 8, 2018

Completed
32.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2050

Expected
30 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2080

Last Updated

November 25, 2025

Status Verified

November 1, 2025

Enrollment Period

37.9 years

First QC Date

April 5, 2018

Last Update Submit

November 24, 2025

Conditions

Primary Ciliary DyskinesiaKartagener Syndrome

Outcome Measures

Primary Outcomes (7)

  • 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

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-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

You may qualify if:

  • Patients diagnosed with primary ciliary dyskinesia

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Bern

Bern, 3012, Switzerland

Location

Related Publications (7)

  • 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.

    PMID: 28052956RESULT

  • 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.

    PMID: 29269581RESULT

  • 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.

    PMID: 30049738RESULT

  • 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.

    PMID: 31273043RESULT

  • 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.

    PMID: 31533829RESULT

  • 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.

    PMID: 32899853RESULT

  • 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.

    PMID: 35301251RESULT

MeSH Terms

Conditions

Ciliary Motility DisordersKartagener Syndrome

Condition Hierarchy (Ancestors)

Respiratory Tract DiseasesOtorhinolaryngologic DiseasesCiliopathiesAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesGenetic Diseases, InbornBronchiectasisBronchial DiseasesRespiratory System AbnormalitiesDextrocardiaHeart Defects, CongenitalCardiovascular AbnormalitiesCardiovascular DiseasesHeart DiseasesSitus Inversus

Study Officials

  • Claudia E Kuehni, Prof

    University of Bern

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
OTHER
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 5, 2018

First Posted

May 8, 2018

Study Start

January 1, 2013

Primary Completion (Estimated)

December 1, 2050

Study Completion (Estimated)

December 1, 2080

Last Updated

November 25, 2025

Record last verified: 2025-11

Data Sharing

IPD Sharing
Will share

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

Locations

CH(1)