Research Summaries

Living with PCD - Research summaries

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

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

BEAT-PCD network: Lay summary of PCD Annual Research Meeting 2025

In honor of PCD Awareness Month, and with the invaluable support of patient representatives whom we sincerely thank, we are pleased to share a lay summary of the BEAT-PCD projects and its key achievements. This summary provides an overview of the presentation by Myrona Goutaki, detailing the progress of the different projects and updates for each work package within the BEAT-PCD network. We hope this offers a clear insight into the ongoing efforts and advancements in the field of Primary Ciliary Dyskinesia. Available in translated versions: English - French - German (coming soon) - Spanish

Patients’ research priorities and participation in primary ciliary dyskinesia research

Please find here a lay summary for the article “Patients’ research priorities and participation in primary ciliary dyskinesia research” authored by Yin Ting Lam, Laura Behan, Katie Dexter, Lucy Dixon, Claudia E. Kuehni, Leonie Schreck, Jane Lucas & Myrona Goutaki. Available in many versions: English - French - Spanish - German - Turkish - Italian

Patients and Parents Ressources

Nasal Nitric Oxide measurement in children for the diagnosis of PCD

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". The ISBN number for the book is ISBN 978-3-907243-00-8.