DIAGNOSE-PCD
Diagnostic integration of advanced genomics to prepare for novel treatment opportunities
and stratification for gene therapy in every PCD patient
Peter Krijger, UMCU
Tamara Paff, UMCU
Bahar Yetkin-Arik, UMCU
Elles Boon, AUMC
Eric Haarman, AUMC
ReCode Therapeutics
Primary Ciliary Dyskinesia (PCD) is a rare inherited lung disease. Tiny hair-like structures called cilia do not work properly, causing repeated infections and, over time, permanent lung damage. Around 20-30% of people with PCD do not yet have a genetic explanation for their condition after standard testing. This can make personalized care more difficult and may prevent them from taking part in future gene therapy studies.
This project aims to find the genetic cause in these patients and prepare them for future treatments. We combine advanced DNA and RNA testing with functional tests using cells from the patient’s airways.
First, we analyse the patient’s DNA to look for genetic changes that could cause PCD. Next, we gently collect cells from the nose and grow them in the laboratory. We then study whether the identified genetic changes affect cilia movement. Finally, we test whether gene therapy can restore normal cilia function in these cells.
This approach could provide more patients with a clear genetic diagnosis and help identify those who may benefit from future gene therapies.
The project will also create a collection of patient airway cells and PCD-related information to support future research. By sharing the methods with PCD researchers worldwide, we aim to accelerate research and create a clear path from diagnosis to readiness for future gene therapy trials.
