DCP (RaDiCo Cohort) (RaDiCo-DCP)

Imagine tiny, hair-like structures called cilia lining your airways, working to sweep away germs and mucus. In people with Primary Ciliary Dyskinesia (PCD), these cilia don't work properly. This means germs and mucus can build up, leading to frequent infections in the nose, sinuses, and lungs, often starting in childhood. Over time, this can cause problems like nasal polyps (growths in the nose) and bronchodilations (damaged and widened airways).

This study is important because about half of people with PCD also have their internal organs, like the heart and liver, on the opposite side of their body (a condition called situs inversus). Men with PCD can also experience infertility, and women might have a higher risk of miscarriages or ectopic pregnancies. Sadly, about a third of patients might eventually develop severe breathing problems. Currently, we don't fully understand why some people with PCD have more severe symptoms than others, or why the quality of life is affected in certain ways. This study aims to fill these gaps in our knowledge.

The RaDiCo-DCP study will collect information from people with PCD. The main goal is to find out what factors might predict how severe the condition becomes, which could lead to earlier and more personalised care. Researchers also want to understand how PCD affects daily life, especially problems with the ears, nose, and throat, and fertility in adults. They will also look closely at the cilia themselves to understand how they are abnormal, and search for new genes that cause PCD. All of this information will help doctors better understand the disease and improve care for patients.