Primary Ciliary DyskinesiaCH-PCDNCT03606200
Swiss Primary Ciliary Dyskinesia Registry
An observational study of Primary Ciliary Dyskinesia and Kartagener Syndrome, run by University of Bern at 1 site in Switzerland.
Trial summary
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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Primary Ciliary Dyskinesia, Kartagener Syndrome
- How many people
- 800 participants
- Where
- 1 siteSwitzerland
- Study dates
- Jan 2013to Dec 2080
- How long will I take part?
- 80 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients of all ages diagnosed with PCD, who are resident or treated in Switzerland.
Who may be able to join
- Patients diagnosed with primary ciliary dyskinesia
- Signed informed consent or assent
Who cannot join
- -
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Switzerland1 site, 1 recruiting
- Recruiting
University of Bern
Bern, 3012
Claudia E Kuehni, Prof, 0041 316313507, spcdr@hin.ch
Myrofora Goutaki, MD-PhD, 0041 316315973, spcdr@hin.ch
About this study
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.
Read the 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.
- Conditions
- Primary Ciliary Dyskinesia, Kartagener Syndrome
- Medical subject headings
- Ciliary Motility Disorders, Kartagener Syndrome
What is being measured
The primary outcome is the main question the study is designed to answer.
Height
Height z-scores calculated based on available national and international references
Measured: every 3 months up to 80 years
BMI
Body Mass Index (BMI) z-scores calculated based on available national and international references
Measured: 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
Measured: every 3 months up to 80 years
Measurement of nasal nitric oxide using breath analyzer
Results of nasal nitric oxide measurement, performed for diagnosis
Measured: 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
Measured: at study entry
Ciliary beat frequency and beat pattern using video microscopy analysis
Results of video microscopy analysis of cilia, performed for diagnosis
Measured: 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).
Measured: 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.
Measured: every 3 months up to 80 years
Chest computed tomography
Radiological findings from chest computed tomography
Measured: every 3 months up to 80 years
Sinus computed tomography
Radiological findings from sinus computed tomography
Measured: 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?
Measured: every 3 months up to 80 years
Clinical symptoms frequency
Frequency of respiratory symptoms recorded with a patient or parent-reported questionnaire
Measured: once a year up to 80 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Jul 2018
- Study startJan 2013
- Primary completionDec 2080 (estimated)
- Study completionDec 2080 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Primary Ciliary DyskinesiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 800 participants (estimated)
- Target duration
- 80 Years
Sponsor and investigators
- Lead sponsor
- University of Bern
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Claudia E Kuehni, Prof, Principal investigator, University of BernMyrofora Goutaki, PD, MD-PhD, Principal investigator, University of Bern
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03606200
- Sponsor's protocol ID
- CH-PCD (SRDR)
- Acronym
- CH-PCD
- Status last verified
- Nov 2025
- First submitted
- 11 Jun 2018
- Last updated
- 25 Nov 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Anonymised data are shared for international collaborative projects. For requests related to IPD please contact spcdr@hin.ch
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.
PubMed 30691261Goutaki 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.
PubMed 35415187Lam 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.
PubMed 36041191
Study at a glance
From the registry record, last updated by the sponsor on 25 Nov 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Swiss Primary Ciliary Dyskinesia Registry
- ClinicalTrials.gov ID
- NCT03606200
- Acronym / sponsor ID
- CH-PCD / CH-PCD (SRDR)
- Conditions
- Primary Ciliary Dyskinesia, Kartagener Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 800 participants (estimated)
- Lead sponsor
- University of BernUniversity, hospital or other
- Study start
- Jan 2013 (actual)
- Primary completion
- Dec 2080 (estimated)
- Study completion
- Dec 2080 (estimated)
- First posted
- 30 Jul 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Observational model
- Cohort
- Time perspective
- Other
- Target follow-up
- 80 Years
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients of all ages diagnosed with PCD, who are resident or treated in Switzerland.
Key inclusion criteria (2 listed)
- Patients diagnosed with primary ciliary dyskinesia
- Signed informed consent or assent
Key exclusion criteria (1 listed)
- -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Height
Time frame: every 3 months up to 80 years
Height z-scores calculated based on available national and international references
BMI
Time frame: every 3 months up to 80 years
Body Mass Index (BMI) z-scores calculated based on available national and international references
Lung function measurements
Time frame: every 3 months up to 80 years
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
Measurement of nasal nitric oxide using breath analyzer
Time frame: at study entry (in case patient is <5 years old at study entry, then the outcome will be assessed at age 5
Results of nasal nitric oxide measurement, performed for diagnosis
Cilia ultrastructure identified using electron microscopy analysis
Time frame: at study entry
Results of electron microscopy analysis of cilia, performed for diagnosis
Ciliary beat frequency and beat pattern using video microscopy analysis
Time frame: at study entry
Results of video microscopy analysis of cilia, performed for diagnosis
Microbiological culture of respiratory samples
Time frame: every 3 months up to 80 years
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).
Antibiotic resistance of microbes isolated in microbiological cultures
Time frame: every 3 months up to 80 years
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.
Chest computed tomography
Time frame: every 3 months up to 80 years
Radiological findings from chest computed tomography
Sinus computed tomography
Time frame: every 3 months up to 80 years
Radiological findings from sinus computed tomography
Vital status
Time frame: every 3 months up to 80 years
Vital status of patient: has the patient died or is he/she still alive and in case of death what was the cause?
Clinical symptoms frequency
Time frame: once a year up to 80 years
Frequency of respiratory symptoms recorded with a patient or parent-reported questionnaire
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 25 Nov 2025.
- Results publication: PubMed 30691261Goutaki 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.
- Results publication: PubMed 35415187Goutaki 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.
- Results publication: PubMed 36041191Lam 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.
- Individual participant dataSharing planned: Undecided. Anonymised data are shared for international collaborative projects. For requests related to IPD please contact spcdr@hin.ch
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Claudia E Kuehni, Prof principal investigator
University of Bern
Myrofora Goutaki, PD, MD-PhD principal investigator
University of Bern
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Primary Ciliary Dyskinesia and Kartagener Syndrome, run by University of Bern at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 25 Nov 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Claudia E Kuehni, Prof (0041 316313507, spcdr@hin.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Height (time frame: every 3 months up to 80 years). The study lists 12 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03606200, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 25 Nov 2025.