PRO-LONG: human models enabling new treatments for Primary Ciliary Dyskinesia

This project brings together researches, clinicians, and  industry partners to develop new gene therapies for Primary Cilliary Dyskinesia (PCD), a rare genetic lung disease. By creating patient-specific airway cell models and establishing a multi-assay cilia function platform, the team can test and optimize therapies in the lab before clinical use. The collaboration between UMC Utrecht, Spirovant, and Pacira Germany combines academic expertise in airway biology with industrial knowledge of gene therapy vectors, forming a strong public-private partnership to accelerate treatment development.

PCD affects approximately 1 in 10,000 people worldwide, often causing chronic respiratory infections, difficulty breathing, and reduced quality of life. Patients may require frequent hospital visits and long-term medical care, placing both a societal and economic burden on healthcare systems. Current treatments are largely supportive, and no cure exists. Innovative therapies are urgently needed to restore lung function and reduce lifelong complications, improving both patient independence and societal productivity.

The project develops advanced airway cell models derived from patient cells, including engineered and immortalized epithelial cells. These models will be integrated into a multi-assay cilia function platform that enables standardized and reproducible testing of gene therapies targeting the faulty genes causing PCD. By restoring the function of the tiny hair-like structures in the lungs that clear mucus, these therapies aim to prevent infections and improve breathing. The combination of experimental research, patient-derived models, and industrial vector expertise provides a unique, translational approach that moves discoveries from the laboratory closer to the clinic.

Key deliverables include a validated multi-assay cilia function platform, patient-specific airway models, optimized gene therapy vectors, detailed functional data demonstrating restoration of cilia activity, and protocols for reproducible testing. The project will also produce publications, datasets, and training materials to share knowledge across the research and clinical community, accelerating future therapeutic applications and benefiting patients worldwide.