An international registry for primary ciliary dyskinesia

Claudius Werner, Martin Lablans, Maximilian Ataian, Johanna Raidt, Julia Wallmeier, Jörg Große-Onnebrink, Claudia E. Kuehni, Eric G. Haarman, Margaret W. Leigh, Alexandra L. Quittner, Jane S. Lucas, Claire Hogg, Michal Witt, Kostas N. Priftis, Panayiotis Yiallouros, Kim G. Nielsen, Francesca Santamaria, Frank Ückert, Heymut Omran

Research output: Contribution to journalArticle

37 Scopus citations

Abstract

Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic upper and lower airway disease. Fundamental data on epidemiology, clinical presentation, course and treatment strategies are lacking in PCD. We have established an international PCD registry to realise an unmet need for an international platform to systematically collect data on incidence, clinical presentation, treatment and disease course. The registry was launched in January 2014. We used internet technology to ensure easy online access using a web browser under www.pcdregistry.eu. Data from 201 patients have been collected so far. The database is comprised of a basic data form including demographic and diagnostic information, and visit forms designed to monitor the disease course. To establish a definite PCD diagnosis, we used strict diagnostic criteria, which required two to three diagnostic methods in addition to classical clinical symptoms. Preliminary analysis of lung function data demonstrated a mean annual decline of percentage predicted forced expiratory volume in 1 s of 0.59% (95% CI 0.98-0.22). Here, we present the development of an international PCD registry as a new promising tool to advance the understanding of this rare disorder, to recruit candidates for research studies and ultimately to improve PCD care.

Original languageEnglish (US)
Pages (from-to)849-859
Number of pages11
JournalEuropean Respiratory Journal
Volume47
Issue number3
DOIs
StatePublished - Mar 1 2016

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

Fingerprint Dive into the research topics of 'An international registry for primary ciliary dyskinesia'. Together they form a unique fingerprint.

  • Cite this

    Werner, C., Lablans, M., Ataian, M., Raidt, J., Wallmeier, J., Große-Onnebrink, J., Kuehni, C. E., Haarman, E. G., Leigh, M. W., Quittner, A. L., Lucas, J. S., Hogg, C., Witt, M., Priftis, K. N., Yiallouros, P., Nielsen, K. G., Santamaria, F., Ückert, F., & Omran, H. (2016). An international registry for primary ciliary dyskinesia. European Respiratory Journal, 47(3), 849-859. https://doi.org/10.1183/13993003.00776-2015