Swiss Primary Ciliary Dyskinesia Registry (CH-PCD)

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.

Study Overview

• Status: Recruiting
• Conditions: Primary Ciliary Dyskinesia; Kartagener Syndrome

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 800

Contacts and Locations

• Study Contact: Name: Claudia E Kuehni, Prof; Phone Number: 0041 316313507; Email: spcdr@hin.ch
• Study Contact Backup: Name: Myrofora Goutaki, PD, MD-PhD; Phone Number: 0041 316315973; Email: spcdr@hin.ch

Study Locations

• Switzerland
  • Bern, Switzerland, 3012
    • Recruiting
    • University of Bern
    • Contact: Claudia E Kuehni, Prof; Phone Number: 0041 316313507; Email: spcdr@hin.ch
    • Contact: Myrofora Goutaki, MD-PhD; Phone Number: 0041 316315973; Email: spcdr@hin.ch

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients of all ages diagnosed with PCD, who are resident or treated in Switzerland.

Description

Inclusion Criteria:

• Patients diagnosed with primary ciliary dyskinesia
• Signed informed consent or assent

Exclusion Criteria:

-

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Other

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: University of Bern
• Investigators: Principal Investigator: Claudia E Kuehni, Prof, University of Bern; Principal Investigator: Myrofora Goutaki, PD, MD-PhD, University of Bern

Publications and helpful links

General Publications

• Goutaki M, Eich MO, Halbeisen FS, Barben J, Casaulta C, Clarenbach C, Hafen G, Latzin P, Regamey N, Lazor R, Tschanz S, Zanolari M, Maurer E, Kuehni CE; Swiss PCD Registry (CH-PCD) Working Group. The Swiss Primary Ciliary Dyskinesia registry: objectives, methods and first results. Swiss Med Wkly. 2019 Jan 13;149:w20004. doi: 10.57187/smw.2019.20004. eCollection 2019 Jan 1.
• Goutaki M, Husler L, Lam YT, Koppe HM, Jung A, Lazor R, Muller L; Swiss PCD Research Group; Pedersen ESL, Kuehni CE. Respiratory symptoms of Swiss people with primary ciliary dyskinesia. ERJ Open Res. 2022 Apr 11;8(2):00673-2021. doi: 10.1183/23120541.00673-2021. eCollection 2022 Apr.
• Lam YT, Pedersen ESL, Schreck LD, Husler L, Koppe H, Belle FN, Clarenbach C, Latzin P; Swiss PCD research group; Kuehni CE, Goutaki M. Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland - a cross-sectional survey. Swiss Med Wkly. 2022 Aug 18;152:w30221. doi: 10.4414/smw.2022.w30221. eCollection 2022 Aug 15.

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2013
• Primary Completion (Estimated): December 1, 2050
• Study Completion (Estimated): December 1, 2050

Study Registration Dates

• First Submitted: June 11, 2018
• First Submitted That Met QC Criteria: July 27, 2018
• First Posted (Actual): July 30, 2018

Study Record Updates

• Last Update Posted (Actual): November 30, 2023
• Last Update Submitted That Met QC Criteria: November 29, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Heart Diseases; Cardiovascular Diseases; Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Bronchial Diseases; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Heart Defects, Congenital; Cardiovascular Abnormalities; Abnormalities, Multiple; Ciliopathies; Bronchiectasis; Respiratory System Abnormalities; Dextrocardia; Situs Inversus; Dyskinesias; Ciliary Motility Disorders; Kartagener Syndrome
• Other Study ID Numbers: CH-PCD (SRDR)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: Anonymised data are shared for international collaborative projects. For requests related to IPD please contact spcdr@hin.ch

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No