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.

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/).

Inclusion Criteria:

• People of any age with reported suspected or confirmed Primary Ciliary Dyskinesia who gave consent to participate in the study

Exclusion Criteria:

• People who report not to have suspected or confirmed Primary Ciliary Dyskinesia

The study includes all persons with primary ciliary dyskinesia who can be contacted via patient organisation networks worldwide.

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.