The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

Abstract

Data on primary ciliary dyskinesia (PCD) epidemiology is scarce and published studies are characterised by low numbers. In the framework of the European Union project BESTCILIA we aimed to combine all available datasets in a retrospective international PCD cohort (iPCD Cohort).We identified eligible datasets by performing a systematic review of published studies containing clinical information on PCD, and by contacting members of past and current European Respiratory Society Task Forces on PCD. We compared the contents of the datasets, clarified definitions and pooled them in a standardised format.As of April 2016 the iPCD Cohort includes data on 3013 patients from 18 countries. It includes data on diagnostic evaluations, symptoms, lung function, growth and treatments. Longitudinal data are currently available for 542 patients. The extent of clinical details per patient varies between centres. More than 50% of patients have a definite PCD diagnosis based on recent guidelines. Children aged 10–19 years are the largest age group, followed by younger children (≤9 years) and young adults (20–29 years).This is the largest observational PCD dataset available to date. It will allow us to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments, and to investigate genotype–phenotype correlations.

Hypertonic saline in patients with primary ciliary dyskinesia: on the road to evidence-based treatment for a rare lung disease

“…2) We must learn more about variability in outcome measures in patients with PCD. This study's data and further observational data collected in international datasets such as the Provalf cohort planned as part of the European Union COST Action BEAT-PCD [26], the international PCD (iPCD) cohort study [27], and the international PCD registry [28] will be important. 3) We need more sensitive outcome measures such as disease-specific quality-of-life instruments (not yet available when this study was conducted) and sensitive lung function measurements [14,16].…”

Clinical care for primary ciliary dyskinesia: current challenges and future directions

“…Furthermore, definitions of important outcomes can vary considerably, hampering comparisons [34]. Pulmonary exacerbation, for example, has been defined in one study as any change in respiratory status that requires intravenous antibiotic treatment [53], and in another as the need for systemic antibiotics and/or a decline of FEV1 % predicted of ⩾10% [62].…”

“…Cut-off values vary considerably between centres, as they depend on local expertise, equipment, techniques, and laboratory and sample conditions [34].…”

Primary Ciliary Dyskinesia: Ready for Quality of Life Assessment

“…Diagnostic workup includes a combination of different techniques such as nasal nitric oxide measurement, high-speed video microscopy analysis, electron microscopy, and genetic analysis because there is no single gold standard due to the genetic and phenotypic heterogeneity of the disease [1,2].Due to the chronic nature of the disease, difficulty in expectorating respiratory secretions, chronic presence of symptoms such as productive cough, and requirement of daily treatment, this disease poses a burden on the patients and their families. PCD negatively impacts quality of life (QOL) because of disease complications as well as treatment burden.…”

“…Diagnostic workup includes a combination of different techniques such as nasal nitric oxide measurement, high-speed video microscopy analysis, electron microscopy, and genetic analysis because there is no single gold standard due to the genetic and phenotypic heterogeneity of the disease [1,2].…”