The purpose of the international prospective PCD Patient Registry is to systematically measure, survey and compare different aspects of PCD manifestation, course and treatment, to provide data for epidemiological research and to identify special patient groups suitable for multi-center trials.
This International PCD Registry is also part of the European Reference Network ERN-LUNG. We follow the recommendations of the EU Expert Committee on Rare Diseases (EUCERD), which recommend an international interoperability of registries and databases to pool and exchange knowledge and data on rare diseases.
Eligibility
Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria
Patients of any age who fulfil the diagnostic criteria below are eligible:
Clinical presentation consistent with PCD and consistent findings specific for PCD in at least two of the following methods:
high frequency video microscopic finding transmission electron microscopy finding immunofluorescence finding low nasal NO concentration/production demonstration of biallelic disease-causing mutations by genotyping
Given the complexity of diagnosing PCD, it is anticipated that not all patients will meet these definite diagnostic criteria. Therefore, individuals with typical clinical symptoms and only one abnormal diagnostic test are also eligible to enter the registry. These cases usually are considered to have a possible PCD diagnosis with exceptions made on an individual basis.
Exclusion Criteria Failure or unwillingness to give written informed consent. Missing qualification to perform legal acts or insufficient cognitive ability to give informed consent. A second disease is no exclusion criteria for including data in the PCD-Registry, especially since it is one of the fundamental goals, to learn about co-morbidities.
Primary outcome measure(s)
descriptive analysis — 10 years Descriptive statistical methods, i.e. frequency tables, location and scale statistics and graphical presentations will be applied to analyse: age at diagnosis, family history (consanguinity), associated malformations/diseases, laterality defects, clinical manifestations (otitis media, rhinosinusitis, pneumonia, bronchiectasis, neonatal respiratory distress syndrome), microbiological results, diagnostic findings (video microscopy, electron microscopy, nasal NO, immunofluorescence analysis), lung function, radiological findings and therapeutic measures (inhalation therapy, antibiotics, oxygen, ventilation, upper airways surgery, lung surgery). Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.
Trial sites (2)
Facility
City
Region
Status
University Hospital Münster
Münster
North Rhine-Westphalia
Recruiting
University Hospital Muenster, Department of General Pediatrics
Münster
Germany
Recruiting
More University Hospital Muenster trials in Germany
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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