Working Together for Better Primary Ciliary Dyskinesia Care

This project brings together hospitals, researchers, a biotech company (ReCode), and patient organisations to improve care for people with Primary Ciliary Dyskinesia (PCD) in the Netherlands. PCD is a rare inherited lung disease that causes frequent airway infections and long-term lung damage.  Amsterdam UMC, UMC Utrecht, ReCode Therapeutics, the Dutch Cystic Fibrosis Foundation, and the Dutch PCD patient group are joining forces to create a national platform for better diagnosis, treatment, and research. PCD affects about one in every 10,000 people. Because symptoms, such as chronic cough, sinus problems, or ear infections, are often mistaken for other illnesses, many patients receive a correct diagnosis only after years of delay.

This leads to avoidable lung damage, reduced quality of life, and high healthcare costs. New RNA-based treatments that can address the root cause of PCD are already in development. However, the Netherlands currently lacks a national structure to identify patients quickly and to prepare for these innovative therapies.

The project will build a national PCD registry that securely collects and connects data from all Dutch patients, linked to European databases. It will also create standardised diagnostic and treatment pathways so that every patient, wherever they live, receives the same high-quality care. Awareness campaigns will help doctors recognise PCD earlier, and close collaboration with ReCode Therapeutics will ensure that the Netherlands is ready for upcoming genetic trials.

By the end of the project, the consortium will deliver a working national registry, national care guidelines, a model to predict severe disease, and a roadmap for introducing new therapies. Together, these results will improve patients’ lives, reduce healthcare inequalities, and strengthen the Netherlands’ position as a leader in rare disease innovation.