Swiss Primary Ciliary Dyskinesia Registry

Study Overview
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Brief Summary
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The Swiss Primary Ciliary Dyskinesia (PCD) Registry is a national patient registry that collects information on diagnosis, symptoms, treatment and follow-up of patients with PCD in Switzerland and provides data for national and international monitoring and research.

Detailed Description
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The Swiss Primary Ciliary Dyskinesia registry (CH-PCD) was founded in 2013 as a collaborative project between epidemiologists and adult and paediatric pulmonologists. It started as a pilot project in the canton of Bern and in 2014 was extended to include all Switzerland. The data centre of the SPCDR is located at the Institute of Social and Preventive Medicine at the University of Bern. It contributes data to the international PCD registry and other international studies such as the international PCD (iPCD) cohort. Objectives of the CH-PCD: The Swiss Primary Ciliary Dyskinesia Registry collects information on diagnosis, symptoms, treatment and follow-up of patients with PCD in Switzerland and provides data for national and international monitoring and research. In particular, it aims to: Identify all patients diagnosed with PCD in Switzerland. Collect population based data (incidence, prevalence, time trends and regional trends). Document diagnostic evaluations, treatments and participation in clinical trials. Document the clinical course of PCD, quality of life, morbidity and mortality. Establish a research platform for clinical, epidemiological and basic research. Study design: The CH-PCD is a patient registry. At baseline (inclusion of a patient to the registry), it collects retrospectively all available data since birth and it follows included patients throughout life until death or loss to follow up, collecting prospectively data at regular time intervals. What data is collected: The CH-PCD collects information on demographic characteristics (e.g. age, sex), diagnostic tests and clinical data about manifestations and management of the disease. It collects repeated follow-up data on growth, lung function, clinical manifestations from all affected organ systems, microbiology and imaging, lab results, therapeutic interventions (including surgery and physiotherapy) and hospitalisations. It also collects information on neonatal symptoms related to the disease and on the symptoms, that led to referral and PCD diagnosis. Since 2020, the CH-PCD collects through questionnaire surveys patient-reported information on symptoms and lifestyle behaviours. Study database: The study database is web-based, using the Research Electronic Data Capture (REDCap) platform developed at Vanderbilt University. REDCap is widely used in academic research and allows data entry and extraction in various formats. How to participate: Patients with PCD who would like to participate to the registry as well as physicians who treat patients with PCD should contact the CH-PCD to receive the study information and informed consent forms. For further details, please contact: spcdr@hin.ch Funding: The setting up of the CH-PCD (salaries, consumables and equipment) was funded by several Swiss funding bodies, including the Lung Leagues of Bern, St. Gallen, Vaud, Ticino and Valais and the Kantonalbernischer Hilfsbund.Research activities based on data included in the CH-PCD are funded by the Swiss National Science foundation (SNF 320030_173044, 320030B_192804 and PZ00P3_185923). The CH-PCD participated to the EU funded BEAT-PCD COST Action (BM1407) and participates to the BEAT-PCD clinical research collaboration supported by the European Respiratory Society.

Official Title
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Swiss Primary Ciliary Dyskinesia Registry

Conditions
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Primary Ciliary Dyskinesia, Kartagener Syndrome

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients diagnosed with primary ciliary dyskinesia Signed informed consent or assent Exclusion Criteria: -
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Height | Height z-scores calculated based on available national and international references | every 3 months up to 80 years | 
| BMI | Body Mass Index (BMI) z-scores calculated based on available national and international references | every 3 months up to 80 years | 
| Lung function measurements | Spirometric indices, particularly Forced expiratory volume in 1 sec (FEV1) and Forced vital capacity (FVC) z-scores calculated based on Global Lung Function Initiative (GLI) reference values | every 3 months up to 80 years | 
| Measurement of nasal nitric oxide using breath analyzer | Results of nasal nitric oxide measurement, performed for diagnosis | at study entry (in case patient is <5 years old at study entry, then the outcome will be assessed at age 5 | 
| Cilia ultrastructure identified using electron microscopy analysis | Results of electron microscopy analysis of cilia, performed for diagnosis | at study entry | 
| Ciliary beat frequency and beat pattern using video microscopy analysis | Results of video microscopy analysis of cilia, performed for diagnosis | at study entry | 
| Microbiological culture of respiratory samples | Results of microbiology cultures of respiratory samples (sputum, cough swabs, throat swabs, ear swabs, bronchoalveolar lavage) expressed in a qualitative (growth or no growth of pathogens) or semiquantitative way (the type of sample depends on the age of the patient and the clinic the sample was collected). | every 3 months up to 80 years | 
| Antibiotic resistance of microbes isolated in microbiological cultures | Information on antibiotic resistance of microbes isolated in microbiological cultures (see outcome 7) of respiratory samples, expressed either semiquantitatively or by the value of minimum inhibitory concentration. | every 3 months up to 80 years | 
| Chest computed tomography | Radiological findings from chest computed tomography | every 3 months up to 80 years | 
| Sinus computed tomography | Radiological findings from sinus computed tomography | every 3 months up to 80 years | 
| Vital status | Vital status of patient: has the patient died or is he/she still alive and in case of death what was the cause? | every 3 months up to 80 years | 
| Clinical symptoms frequency | Frequency of respiratory symptoms recorded with a patient or parent-reported questionnaire | once a year up to 80 years |