Primary Ciliary DyskinesiaNCT04602481
Living With Primary Ciliary Dyskinesia (Living With PCD)
An observational study of Primary Ciliary Dyskinesia, run by University of Bern at 1 site in Switzerland.
Trial summary
Living with PCD (formerly COVID-PCD) is a participatory research project that aims to answer emerging questions about primary ciliary dyskinesia (PCD) in order to improve the health and quality of life of people with PCD. Persons with confirmed or suspected PCD from anywhere in the world can participate. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Primary Ciliary Dyskinesia
- How many people
- 1,500 participants
- Where
- 1 siteSwitzerland
- Study dates
- 31 May 2020to 31 May 2030
- 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: The study includes all persons with primary ciliary dyskinesia who can be contacted via patient organisation networks worldwide.
Who may be able to join
- People of any age with reported suspected or confirmed Primary Ciliary Dyskinesia who gave consent to participate in the study
Who cannot join
- People who report not to have suspected or confirmed Primary Ciliary Dyskinesia
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
Institute of Social and Preventive Medicine (ISPM), University of Bern
Bern, 3012
Claudia E Kuehni, Prof., +41 (0)31 684 35 07, claudia.kuehni@ispm.unibe.ch
Myrofora Goutaki, Prof., +41 31 684 5973, myrofora.goutaki@unibe.ch
About this study
Official title: Living With Primary Ciliary Dyskinesia (Formerly COVID-PCD)
Living with PCD (formerly COVID-PCD) is a participatory research project that aims to answer emerging questions about primary ciliary dyskinesia (PCD) in order to improve the health and quality of life of people with PCD. Persons with confirmed or suspected PCD from anywhere in the world can participate. The study is advertised through patient support groups and participants register online after they read detailed information about the study. Participants receive a detailed questionnaire when they start the study and a follow-up questionnaire (planned once per year). Occasionally, participants receive extra questionnaires focused on special topics. The study is hosted at the University of Bern and recruitment started on May 30th, 2020.
Read the detailed description
Background: The study aims to increase knowledge about PCD in order to improve the health and quality of life of people with PCD. The study started in 2020 when PCD patient support groups asked for a study that finds out what happens to people with PCD during the COVID-19 pandemic, because patients with chronic lung disease such as primary ciliary dyskinesia (PCD) were thought to be at increased risk, but no data supported this. PCD patient support groups initiated the idea of a survey that gathers essential knowledge on effects of COVID-19 on people with PCD and makes it available to patients, physicians, and policy makers in real time. After the pandemic, with the continuous encouragement of PCD patient support groups, we want to continue to learn more about other topics important for people living with PCD, such as lung health, mental health or treatment burden by obtaining regular updates via online questionnaires.
Aims: The initial aims of the study was to set up an online surveillance system of COVID-19 for people with PCD. As the aims of the study broaden, we aim to generate knowledge about PCD and study questions raised by people living with PCD and their families. Research questions refer among others to prevalence, severity and progression of disease and symptoms over time, reproductive health, exercise behaviour, nutrition, social and psychological well-being, social inclusion and participation, treatment burden and healthcare related aspects.
Methods: The study population includes all patients with confirmed or suspected PCD from anywhere in the world who can be contacted via patient support groups or find information about the study on the study website. Local support groups invite their contacts using social media and mailing lists. People with PCD can participate via a link on the study website (https://pcd.ispm.ch/en/), where they can read the study information and give consent. Parents of a child with PCD can take part in the study and fill in the study questionnaires with their child. Once registered, participants receive a link via e-mail to the baseline questionnaire with questions about PCD diagnosis, symptoms, and treatment, and health-related behaviours (e.g. exercise), and some general information about the living conditions. Once a year, participants receive a follow-up questionnaire, about current symptoms and treatments to understand who disease progresses with time.
Throughout the study, occasional questionnaires are sent out focusing on emerging questions of interest such as physical activity, mental health, or nutrition. Participants may also suggest topics to be included in these questionnaires and help shape the study. Summaries of results are published on the study website.
Current status: In October 2025, the study received a renewed ethical approval for the renaming to Living with PCD and to cover the broader aims and a wide study re-launch is planned end of 2025. Results from the study, publications, and plain language summaries are listed on the study website (https://pcd.ispm.ch/en/publications/).
- Conditions
- Primary Ciliary Dyskinesia
- Medical subject headings
- Ciliary Motility Disorders
What is being measured
The primary outcome is the main question the study is designed to answer.
Patient-reported respiratory symptoms
Prevalence of reported clinical symptoms at different age groups such as cough, shortness of breath, hearing problems
Measured: At baseline and through study completion, an average of 1 year
Exercise-behaviour
Characteristics of exercise-behaviours (frequency, type) at baseline
Measured: At baseline and through study completion, an average of 1 year
Treatments
Information about prescribed treatments for PCD including antibiotics, inhalations, and physiotherapy
Measured: At baseline and through study completion, an average of 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Oct 2020
- Study start31 May 2020
- Primary completion31 May 2030 (estimated)
- Study completion31 May 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Primary Ciliary DyskinesiaStudies of the same condition, open and under way.
- More trials run by University of BernThe sponsor's other registered studies.
- 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
- Prospective
- Enrolment
- 1,500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Bern
- Sponsor type
- University, hospital or other
- Collaborators
- Selbsthilfegruppe Kartagener Syndrom und Primäre Ciliäre Dyskinesie, Verein Kartagener Syndrom und PCD, PCD Support UK, PCD Foundation, PCD Australia, European Lung Foundation, University of Southampton, Universität Luzern, Associazione Italiana Discinesia Ciliare Primaria Sindrome di Kargagener APS, Asociación Nacional de Pacientes con Discinesia Ciliar Primaria, Association Dyskinésie Ciliaire Primitive ADCP
- Responsible party
- Sponsor
- Investigators
- Claudia E Kuehni, Prof., Principal investigator, University of BernMyrofora Goutaki, Prof, Study director, University of Bern
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04602481
- Sponsor's protocol ID
- Living with PCD (COVID-PCD)
- Status last verified
- Nov 2025
- First submitted
- 23 Oct 2020
- Last updated
- 2 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Researchers who wish to use data should submit a concept sheet describing the planned analysis and send it to Prof. Claudia Kuehni (Claudia.kuehni@unibe.ch). The concept sheet will be discussed with the patient advisory group and if agreed, a partial dataset will be prepared by the research team.
Publications
Schreck LD, Pedersen ESL, Dexter K, Manion M; Living with PCD Study Advisory Group; Massin N, Maitre B, Goutaki M, Kuehni CE. Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia. Hum Reprod Open. 2024 Jun 18;2024(3):hoae039. doi: 10.1093/hropen/hoae039. eCollection 2024.
PubMed 38962571
Study at a glance
From the registry record, last updated by the sponsor on 2 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Living With Primary Ciliary Dyskinesia (Formerly COVID-PCD)
- ClinicalTrials.gov ID
- NCT04602481
- Acronym / sponsor ID
- Living with PCD (COVID-PCD)
- Conditions
- Primary Ciliary Dyskinesia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,500 participants (estimated)
- Lead sponsor
- University of BernUniversity, hospital or other
- Collaborators
- Selbsthilfegruppe Kartagener Syndrom und Primäre Ciliäre Dyskinesie, Verein Kartagener Syndrom und PCD, PCD Support UK, PCD Foundation, PCD Australia, European Lung Foundation, University of Southampton, Universität Luzern, Associazione Italiana Discinesia Ciliare Primaria Sindrome di Kargagener APS, Asociación Nacional de Pacientes con Discinesia Ciliar Primaria, Association Dyskinésie Ciliaire Primitive ADCP
- Study start
- 31 May 2020 (actual)
- Primary completion
- 31 May 2030 (estimated)
- Study completion
- 31 May 2030 (estimated)
- First posted
- 26 Oct 2020 (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.
Living with PCD (formerly COVID-PCD) is a participatory research project that aims to answer emerging questions about primary ciliary dyskinesia (PCD) in order to improve the health and quality of life of people with PCD. Persons with confirmed or suspected PCD from anywhere in the world can participate. The study is advertised through patient support groups and participants register online after they read detailed information about the study. Participants receive a detailed questionnaire when they start the study and a follow-up questionnaire (planned once per year). Occasionally, participants receive extra questionnaires focused on special topics. The study is hosted at the University of Bern and recruitment started on May 30th, 2020.
Detailed description
Background: The study aims to increase knowledge about PCD in order to improve the health and quality of life of people with PCD. The study started in 2020 when PCD patient support groups asked for a study that finds out what happens to people with PCD during the COVID-19 pandemic, because patients with chronic lung disease such as primary ciliary dyskinesia (PCD) were thought to be at increased risk, but no data supported this. PCD patient support groups initiated the idea of a survey that gathers essential knowledge on effects of COVID-19 on people with PCD and makes it available to patients, physicians, and policy makers in real time. After the pandemic, with the continuous encouragement of PCD patient support groups, we want to continue to learn more about other topics important for people living with PCD, such as lung health, mental health or treatment burden by obtaining regular updates via online questionnaires.
Aims: The initial aims of the study was to set up an online surveillance system of COVID-19 for people with PCD. As the aims of the study broaden, we aim to generate knowledge about PCD and study questions raised by people living with PCD and their families. Research questions refer among others to prevalence, severity and progression of disease and symptoms over time, reproductive health, exercise behaviour, nutrition, social and psychological well-being, social inclusion and participation, treatment burden and healthcare related aspects.
Methods: The study population includes all patients with confirmed or suspected PCD from anywhere in the world who can be contacted via patient support groups or find information about the study on the study website. Local support groups invite their contacts using social media and mailing lists. People with PCD can participate via a link on the study website (https://pcd.ispm.ch/en/), where they can read the study information and give consent. Parents of a child with PCD can take part in the study and fill in the study questionnaires with their child. Once registered, participants receive a link via e-mail to the baseline questionnaire with questions about PCD diagnosis, symptoms, and treatment, and health-related behaviours (e.g. exercise), and some general information about the living conditions. Once a year, participants receive a follow-up questionnaire, about current symptoms and treatments to understand who disease progresses with time.
Throughout the study, occasional questionnaires are sent out focusing on emerging questions of interest such as physical activity, mental health, or nutrition. Participants may also suggest topics to be included in these questionnaires and help shape the study. Summaries of results are published on the study website.
Current status: In October 2025, the study received a renewed ethical approval for the renaming to Living with PCD and to cover the broader aims and a wide study re-launch is planned end of 2025. Results from the study, publications, and plain language summaries are listed on the study website (https://pcd.ispm.ch/en/publications/).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study includes all persons with primary ciliary dyskinesia who can be contacted via patient organisation networks worldwide.
Key inclusion criteria (1 listed)
- People of any age with reported suspected or confirmed Primary Ciliary Dyskinesia who gave consent to participate in the study
Key exclusion criteria (1 listed)
- People who report not to have suspected or confirmed Primary Ciliary Dyskinesia
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
Patient-reported respiratory symptoms
Time frame: At baseline and through study completion, an average of 1 year
Prevalence of reported clinical symptoms at different age groups such as cough, shortness of breath, hearing problems
Exercise-behaviour
Time frame: At baseline and through study completion, an average of 1 year
Characteristics of exercise-behaviours (frequency, type) at baseline
Treatments
Time frame: At baseline and through study completion, an average of 1 year
Information about prescribed treatments for PCD including antibiotics, inhalations, and physiotherapy
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 2 Dec 2025.
- Derived from this study: PubMed 38962571Schreck LD, Pedersen ESL, Dexter K, Manion M; Living with PCD Study Advisory Group; Massin N, Maitre B, Goutaki M, Kuehni CE. Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia. Hum Reprod Open. 2024 Jun 18;2024(3):hoae039. doi: 10.1093/hropen/hoae039. eCollection 2024.
- Study websiteLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. Researchers who wish to use data should submit a concept sheet describing the planned analysis and send it to Prof. Claudia Kuehni (Claudia.kuehni@unibe.ch). The concept sheet will be discussed with the patient advisory group and if agreed, a partial dataset will be prepared by the research team.
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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, Prof study director
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, 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 1 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 2 Dec 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. (+41 31 684 35 07, claudia.kuehni@unibe.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patient-reported respiratory symptoms (time frame: At baseline and through study completion, an average of 1 year). The study lists 3 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 NCT04602481, which also lists 1 linked publication.
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 2 Dec 2025.