@article{3101265,
    title = "An international registry for primary ciliary dyskinesia",
    author = "Werner, C. and Lablans, M. and Ataian, M. and Raidt, J. and Wallmeier, J. and Große-Onnebrink, J. and Kuehni, C.E. and Haarman, E.G. and Leigh, M.W. and Quittner, A.L. and Lucas, J.S. and Hogg, C. and Witt, M. and Priftis, K.N. and Yiallouros, P. and Nielsen, K.G. and Santamaria, F. and Ückert, F. and Omran, H.",
    journal = "European Respiratory Journal",
    year = "2016",
    volume = "47",
    number = "3",
    pages = "849-859",
    publisher = "European Respiratory Society",
    issn = "0903-1936, 1399-3003",
    doi = "10.1183/13993003.00776-2015",
    keywords = "antibiotic agent;  bronchodilating agent;  corticosteroid, Article;  artificial ventilation;  ciliary dyskinesia;  clinical feature;  Denmark;  disease registry;  Germany;  human;  international cooperation;  kinesiotherapy;  lung function;  lung lobectomy;  lung transplantation;  online system;  oxygen therapy;  patient monitoring;  physiotherapy;  positive end expiratory pressure;  priority journal;  quality of life;  rare disease;  Switzerland;  systematic review;  United Kingdom;  United States;  web browser;  adolescent;  adult;  age distribution;  aged;  child;  disease course;  Europe;  female;  forced expiratory volume;  incidence;  infant;  Internet;  intersectoral collaboration;  Kartagener syndrome;  male;  middle aged;  North America;  patient selection;  preschool child;  register;  young adult, Adolescent;  Adult;  Age Distribution;  Aged;  Child;  Child, Preschool;  Disease Progression;  Europe;  Female;  Forced Expiratory Volume;  Humans;  Incidence;  Infant;  Internet;  Intersectoral Collaboration;  Kartagener Syndrome;  Male;  Middle Aged;  North America;  Patient Selection;  Registries;  Young Adult",
    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. © ERS 2016."
}