The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results

Goutaki, Myrofora; Eich, Marc O.; Halbeisen, Florian S.; Barben, Juerg; Casaulta, Carmen; Clarenbach, Christian; Hafen, Gaudenz; Latzin, Philipp; Regamey, Nicolas; Lazor, Romain; Tschanz, Stefan A.; Zanolari, Maura; Maurer, Elisabeth; Kuehni, Claudia E. (2019). The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results. Swiss medical weekly, 149, w20004. EMH Schweizerischer Ärzteverlag 10.4414/smw.2019.20004

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Primary ciliary dyskinesia (PCD) is a rare, hereditary, multiorgan disease caused by defects in the structure and function of motile cilia. It results in a wide range of clinical manifestations, most commonly in the upper and lower airways. Central data collection in national and international registries is essential to studying the epidemiology of rare diseases and filling in gaps in knowledge of diseases such as PCD. For this reason, the Swiss Primary Ciliary Dyskinesia Registry (CH-PCD) was founded in 2013 as a collaborative project between epidemiologists and adult and paediatric pulmonologists. We describe the objectives and methodology of the CH-PCD, present initial results, and give an overview of current and ongoing projects. The registry records patients of any age, suffering from PCD, who are treated and resident in Switzerland. It collects information from patients identified through physicians, diagnostic facilities and patient organisations. The registry dataset contains data on diagnostic evaluations, lung function, microbiology and imaging, symptoms, treatments and hospitalisations. By May 2018, CH-PCD has contacted 566 physicians of different specialties and identified 134 patients with PCD. At present, this number represents an overall 1 in 63,000 prevalence of people diagnosed with PCD in Switzerland. Prevalence differs by age and region; it is highest in children and adults younger than 30 years, and in Espace Mittelland. The median age of patients in the registry is 25 years (range 5–73), and 41 patients have a definite PCD diagnosis based on recent international guidelines. Data from CH-PCD are contributed to international collaborative studies and the registry facilitates patient identification for nested studies. CH-PCD has proven to be a valuable research tool that already has highlighted weaknesses in PCD clinical practice in Switzerland. Trial registration number: NCT03606200

Item Type:

Journal Article (Original Article)

Division/Institute:

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

UniBE Contributor:

Gkoutaki or Goutaki, Myrofora; Halbeisen, Florian Samuel; Latzin, Philipp; Tschanz, Stefan A. and Kühni, Claudia

Subjects:

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

ISSN:

1424-7860

Publisher:

EMH Schweizerischer Ärzteverlag

Language:

English

Submitter:

Doris Kopp Heim

Date Deposited:

07 Mar 2019 16:31

Last Modified:

23 Oct 2019 07:33

Publisher DOI:

10.4414/smw.2019.20004

PubMed ID:

30691261

Uncontrolled Keywords:

primary ciliary dyskinesia Swiss Primary Ciliary Dyskinesia Registry orphan diseases patient registry epidemiology

BORIS DOI:

10.7892/boris.127684

URI:

https://boris.unibe.ch/id/eprint/127684

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