title: An international registry for primary ciliary dyskinesia.
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.
authors.affiliation: Dept of General Paediatrics, Paediatric Pulmonology Unit, University Children's Hospital Muenster, Münster, Germany claudius.werner@ukmuenster.de.
authors.forename: Claudius
authors.initials: C
authors.lastname: Werner
authors.affiliation: Institute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center of Johannes Gutenberg University Mainz, Mainz, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Lablans
authors.affiliation: Institute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center of Johannes Gutenberg University Mainz, Mainz, Germany.
authors.forename: Maximilian
authors.initials: M
authors.lastname: Ataian
authors.affiliation: Dept of General Paediatrics, Paediatric Pulmonology Unit, University Children's Hospital Muenster, Münster, Germany.
authors.forename: Johanna
authors.initials: J
authors.lastname: Raidt
authors.affiliation: Dept of General Paediatrics, Paediatric Pulmonology Unit, University Children's Hospital Muenster, Münster, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Wallmeier
authors.affiliation: Dept of General Paediatrics, Paediatric Pulmonology Unit, University Children's Hospital Muenster, Münster, Germany.
authors.forename: Jörg
authors.initials: J
authors.lastname: Große-Onnebrink
authors.affiliation: Institute of Social and Preventive Medicine (ISPM), Paediatric Respiratory Epidemiology, University of Bern, Bern, Switzerland.
authors.forename: Claudia E
authors.initials: CE
authors.lastname: Kuehni
authors.affiliation: Dept of Paediatric Pulmonology, VU University Medical Center, Amsterdam, The Netherlands.
authors.forename: Eric G
authors.initials: EG
authors.lastname: Haarman
authors.affiliation: Dept of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA.
authors.forename: Margaret W
authors.initials: MW
authors.lastname: Leigh
authors.affiliation: Dept of Psychology, University of Miami, Coral Gables, FL, USA.
authors.forename: Alexandra L
authors.initials: AL
authors.lastname: Quittner
authors.affiliation: University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust, Southampton, UK.
authors.forename: Jane S
authors.initials: JS
authors.lastname: Lucas
authors.affiliation: Dept of Respiratory Paediatrics, Royal Brompton Hospital, London, UK.
authors.forename: Claire
authors.initials: C
authors.lastname: Hogg
authors.affiliation: Dept of Molecular and Clinical Genetics, Institute of Human Genetics, Polish Academy of Sciences, Poznan and International Institute of Molecular and Cell Biology, Warsaw, Poland.
authors.forename: Michal
authors.initials: M
authors.lastname: Witt
authors.affiliation: Paediatric Pulmonology, 3rd Dept of Paediatrics, National and Kapodistrian University of Athens, School of Medicine, Attikon University Hospital, Athens, Greece.
authors.forename: Kostas N
authors.initials: KN
authors.lastname: Priftis
authors.affiliation: Cyprus International Institute for Environmental & Public Health in Association with Harvard School of Public Health, Cyprus University of Technology, Limassol, Cyprus.
authors.forename: Panayiotis
authors.initials: P
authors.lastname: Yiallouros
authors.affiliation: Danish PCD Centre, Paediatric Pulmonary Service, Dept of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Copenhagen, Denmark.
authors.forename: Kim G
authors.initials: KG
authors.lastname: Nielsen
authors.affiliation: Dept of Medical Translational Sciences, Federico II University, Naples, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Santamaria
authors.affiliation: Institute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center of Johannes Gutenberg University Mainz, Mainz, Germany.
authors.forename: Frank
authors.initials: F
authors.lastname: Ückert
authors.affiliation: Dept of General Paediatrics, Paediatric Pulmonology Unit, University Children's Hospital Muenster, Münster, Germany.
authors.forename: Heymut
authors.initials: H
authors.lastname: Omran
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005060:Europe; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D015994:Incidence; D007223:Infant; D020407:Internet; D000070516:Intersectoral Collaboration; D007619:Kartagener Syndrome / Q000175:diagnosis* / Q000453:epidemiology*; D008297:Male; D008875:Middle Aged; D009656:North America; D018579:Patient Selection; D012042:Registries; D055815:Young Adult