Clinical trial NCT03517865: International Primary Ciliary Dyskinesia Cohort
Official title: International Primary Ciliary Dyskinesia Cohort
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Primary Ciliary Dyskinesia
Kartagener Syndrome
Lead sponsor: University of Bern
Sponsor class: OTHER
Collaborators: name: European Commission
name: Swiss National Science Foundation
name: University of Southampton
name: Pierre and Marie Curie University
name: Bar-Ilan University, Israel
name: University of Padova
name: University Hospital, Gasthuisberg
name: Oslo University Hospital
name: Amsterdam UMC, location VUmc
name: Royal Brompton & Harefield NHS Foundation Trust
name: Marmara University
name: Ruhr University of Bochum
name: Genetic Disorders of Mucociliary Clearance Consortium
name: Institute of Tuberculosis and Lung Disorders, Rabka Poland
name: University of Sydney
name: Copenhagen University Hospital, Denmark
name: University Hospital Muenster
name: Hannover Medical School
name: Hospital de Niños R. Gutierrez de Buenos Aires
name: University of Cyprus
name: Medical Centre Dr Dragisa Misovic
name: Hacettepe University
name: University Hospital, Motol
name: Clinica de neumologia pediatrica Compensar
name: Attikon Hospital
name: University of Leicester
First posted: 2018-05-08
Enrollment: 5000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
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

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).

Eligibility criteria: Inclusion Criteria:

Patients diagnosed with primary ciliary dyskinesia

Exclusion Criteria:

-

Primary outcomes:
measure: Height
timeFrame: every 3 months up to 10 years
measure: BMI
timeFrame: every 3 months up to 10 years
measure: Lung function measurements
timeFrame: every 3 months up to 10 years
measure: Diagnostic test results
timeFrame: at diagnosis/ study entry
measure: Clinical symptoms and signs
timeFrame: every 3 months up to 10 years
measure: Microbiology results
timeFrame: every 3 months up to 10 years
measure: Imaging results
timeFrame: every 3 months up to 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Bern
country: Switzerland
facility: University of Bern
Study officials:
affiliation: University of Bern
name: Claudia E Kuehni, Prof
role: PRINCIPAL_INVESTIGATOR
References:
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