The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results.

Goutaki, Myrofora; Maurer, Elisabeth; Halbeisen, Florian S; Amirav, Israel; Barbato, Angelo; Behan, Laura; Boon, Mieke; Casaulta, Carmen; Clement, Annick; Crowley, Suzanne; Haarman, Eric; Hogg, Claire; Karadag, Bulent; Koerner-Rettberg, Cordula; Leigh, Margaret W; Loebinger, Michael R; Mazurek, Henryk; Morgan, Lucy; Nielsen, Kim G; Omran, Heymut; ... (2017). The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. European respiratory journal, 49(1), p. 1601181. European Respiratory Society 10.1183/13993003.01181-2016

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Data on primary ciliary dyskinesia (PCD) epidemiology is scarce and published studies are characterised by low numbers. In the framework of the European Union project BESTCILIA we aimed to combine all available datasets in a retrospective international PCD cohort (iPCD Cohort).We identified eligible datasets by performing a systematic review of published studies containing clinical information on PCD, and by contacting members of past and current European Respiratory Society Task Forces on PCD. We compared the contents of the datasets, clarified definitions and pooled them in a standardised format.As of April 2016 the iPCD Cohort includes data on 3013 patients from 18 countries. It includes data on diagnostic evaluations, symptoms, lung function, growth and treatments. Longitudinal data are currently available for 542 patients. The extent of clinical details per patient varies between centres. More than 50% of patients have a definite PCD diagnosis based on recent guidelines. Children aged 10-19 years are the largest age group, followed by younger children (≤9 years) and young adults (20-29 years).This is the largest observational PCD dataset available to date. It will allow us to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments, and to investigate genotype-phenotype correlations.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Social and Preventive Medicine
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

Graduate School:

Graduate School for Health Sciences (GHS)

UniBE Contributor:

Goutaki, Myrofora; Maurer, Elisabeth; Halbeisen, Florian and Kühni, Claudia

Subjects:

600 Technology > 610 Medicine & health
300 Social sciences, sociology & anthropology > 360 Social problems & social services

ISSN:

0903-1936

Publisher:

European Respiratory Society

Language:

English

Submitter:

Doris Kopp Heim

Date Deposited:

17 Jan 2017 15:32

Last Modified:

19 Jan 2017 09:46

Publisher DOI:

10.1183/13993003.01181-2016

PubMed ID:

28052956

BORIS DOI:

10.7892/boris.93491

URI:

https://boris.unibe.ch/id/eprint/93491

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