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 language | English (US) |
|---|---|
| Pages (from-to) | 849-859 |
| Number of pages | 11 |
| Journal | European Respiratory Journal |
| Volume | 47 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 1 2016 |
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ASJC Scopus subject areas
- Pulmonary and Respiratory Medicine
Cite this
An international registry for primary ciliary dyskinesia. / Werner, Claudius; Lablans, Martin; Ataian, Maximilian; Raidt, Johanna; Wallmeier, Julia; Große-Onnebrink, Jörg; Kuehni, Claudia E.; Haarman, Eric G.; Leigh, Margaret W.; Quittner, Alexandra; Lucas, Jane S.; Hogg, Claire; Witt, Michal; Priftis, Kostas N.; Yiallouros, Panayiotis; Nielsen, Kim G.; Santamaria, Francesca; Ückert, Frank; Omran, Heymut.
In: European Respiratory Journal, Vol. 47, No. 3, 01.03.2016, p. 849-859.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - An international registry for primary ciliary dyskinesia
AU - Werner, Claudius
AU - Lablans, Martin
AU - Ataian, Maximilian
AU - Raidt, Johanna
AU - Wallmeier, Julia
AU - Große-Onnebrink, Jörg
AU - Kuehni, Claudia E.
AU - Haarman, Eric G.
AU - Leigh, Margaret W.
AU - Quittner, Alexandra
AU - Lucas, Jane S.
AU - Hogg, Claire
AU - Witt, Michal
AU - Priftis, Kostas N.
AU - Yiallouros, Panayiotis
AU - Nielsen, Kim G.
AU - Santamaria, Francesca
AU - Ückert, Frank
AU - Omran, Heymut
PY - 2016/3/1
Y1 - 2016/3/1
N2 - 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.
AB - 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.
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U2 - 10.1183/13993003.00776-2015
DO - 10.1183/13993003.00776-2015
M3 - Article
VL - 47
SP - 849
EP - 859
JO - Acta tuberculosea Scandinavica
JF - Acta tuberculosea Scandinavica
SN - 0903-1936
IS - 3
ER -