Patient Resources

Here you can explore easy-to-read summaries of PCD research, find studies that are currently looking for participants, and access helpful educational resources. We aim to make research clearer and more accessible, so you can stay informed, get involved, and connect with the wider PCD community.

Research Summaries

Conferences

Living with PCD project

A logo with a stylized red human figure on the left, three red circle designs at the top, and the text 'Living with PCD' in blue and black fonts.

Fertility experiences of people with PCD and their family caregivers: Women and men with primary ciliary dyskinesia (PCD) often have problems having children. This can significantly impact their lives, yet little is known about their fertility experiences. Understanding these experiences is important to improve support, address concerns, and ensure people with PCD can make informed decisions about family planning. Published in June 2025

Incidence and predictors of lung exacerbations in PCD: Lung exacerbations, i.e. flare-ups of lung symptoms, are common among people with primary ciliary dyskinesia (PCD) and often due to infections. Frequent exacerbations can damage the lungs over time and reduce quality of life. However, it is unclear how often people with PCD have an exacerbation. We also do not know who is at higher risk of frequent exacerbations. This knowledge could lead to earlier and more targeted treatments when needed, improving the care and health outcomes of people with PCD. Published in January 2025

Questionnaire assessed genotypes and associations with symptoms in PCD: It is important to understand the role of specific genetic mutations (changes in the DNA) in primary ciliary dyskinesia (PCD). If we better understand which mutations lead to which symptoms, people can get access to the appropriate treatment depending on their genetic type of PCD. We studied how the more than 50 different genes that cause PCD relate to self-reported symptoms and characteristics such as age of PCD diagnosis and laterality defects (one or more organs situated in the wrong side of the body). Published in October 2024

Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia: People with primary ciliary dyskinesia (PCD) can have issues conceiving. It is unclear how many with PCD struggle to have children, and how many are able to have children with help. We also do not know if women with PCD tend to have more ectopic pregnancies (pregnancies outside of the uterus) than the general population. We wanted to know the answers to these questions. Published in June 2024

If you are interested in reading more from the Living with PCD study, please visit their website. The content is available in English, German, French, Italian, and Spanish.

Patients and Parents Ressources

European Lung Foundation - Diagnosing primary ciliary dyskinesia: understanding the professional guidelines

Understanding a diagnosis of primary ciliary dyskinesia (PCD) can be complex, but it doesn't have to be. The European Lung Foundation has published a new patient-friendly guide explaining the latest ERS/ATS professional guidelines for diagnosing PCD in clear, accessible language. The resource walks through the diagnostic pathway, explains the different tests used, and helps patients, families, and healthcare professionals better understand how a diagnosis is reached—empowering informed discussions and improving awareness of this rare disease.

European Lung Foundation - Primary Ciliary Dyskinesia information

The European Lung Foundation (ELF) website hosts a dedicated page on PCD, offering comprehensive, patient-friendly information. Visitors can learn from people living with PCD and explore key topics including symptoms, diagnosis, causes, treatment and management options, living with PCD, and prognosis and long-term outlook. The page also features the latest PCD news, alongside useful resources and signposting to additional support and specialist services.

Nasal Nitric Oxide measurement in children for the diagnosis of PCD

What you need to know about nNO measurement

This parent information leaflet provides information on the measurement of nasal nitric oxide (nNO) in children. This test is undertaken in children investigated for primary ciliary dyskinesia (PCD), a rare inherited respiratory disease.

English - Georgian - German - Greek - FrenchItalian - Swedish - Turkish

More translated versions in many langages to come.


A man with glasses holding a book titled "husten verboten" in a room with a plain white wall.

In his autobiography “Coughing forbidden - A Life with a Rare Disease”, Hansruedi Silberschmidt describes his life and medical path to PCD diagnosis and beyond. Despite having typical symptoms since birth, Hansruedi was diagnosed at age 39 after repeated visits to specialists and pulmonary rehabillitation clinics. In his book he describes vividly the difficult path of a person with PCD through life, how he navigated through the labyrinth of modern medicine and how was able to participate successfully in life despite his chronic illness. This autobiography was just published and it is an empowering read for people with PCD and their families.

The book is available in bookstores and online retailers, in German with the original title "Husten verboten- Ein Leben mit einer seltenen Krankheit" (ISBN 978-3-907243-00-8).