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Cystic Fibrosis

About one third of all Dutch patients with CF are treated in Utrecht. The Center is a key partner of the Dutch Cystic Fibrosis Foundation, chairs the CF-core network of the European Reference Network for rare lung diseases (ERN-LUNG) and coordinates a large H2020 initiative to realize CFTR-modulating therapies in 15 countries throughout Europe. The research group of the CF-Center Utrecht developed stem cell based assay technology to model human pulmonary disease, which raised huge international interest to predict and understand the individual impact of new CFTR modulating drugs.

Lifecycle

About one third of all patients with Cystic Fibrosis (CF) in the Netherlands is treated in the University Medical Center Utrecht. Both care and research are typically organized according to a life cycle perspective. All diagnostic and treatment modalities are offered to our patients, starting with early diagnosis in the neonatal heel prick screening program to continuous positive airway pressure ventilation and a lung transplant program for those with end stage disease. The clinical teams of the pediatric department (headed by Prof C.K. van der Ent) and the adult department (headed by Prof H.G.M Heijerman) started a combined life cycle outpatient department in 2018. In this approach not age is the major determinant of care-giving, but care is provided by the physician most familiar with the specific problems of the patient. The pediatric and adult teams share a long-term follow-up database in which early determinants can be connected to late outcomes of disease. Both teams also share one clinical research team which is responsible for all clinical trials in both children and adults.

Interdisciplinary

Within the multidisciplinary clinical research team the pulmonologists collaborate with researchers covering respiratory tract infections (Prof L.J. Bont), liver disease (Prof R. Houwen) and imaging (Dr R. Nievelstein). During last decade the clinical research mainly focused the diagnosis and treatment of (Pseudomonas-related) respiratory tract infections. Since 2012 revolutionary breakthroughs with regard to possibilities to modify the CFTR protein became available. Dr Beekman, heading the pediatric pulmonology research lab –in collaboration with the Hubrecht Lab- developed an intestinal stemcell based model to measure CFTR function in individual patients. This model has enormously boosted personalized medicine in the international field of CF, and was successfully applied in the clinic within five years after the initial development. Since then, the CF-Center Utrecht has a leading role in organoid-based research within the Clinical Trial Network of the European Cystic Fibrosis Society and the CF-corenetwork of the European Reference Network for lung diseases (ERN-LUNG).

Investigators

Testing medicine with organoids

Physical & mental development

CF is a highly multifaceted multi-organ disease, not only affecting physical, but also developmental aspects of live. Physical exercise is an important cornerstone of CF-treatment and in Utrecht the exercise physiology department (headed by Dr J.J. van der Net and Dr T. Takken) is highly involved in CF-research. Many patients suffer from severe fatigue, which is an area of research for both clinicians within the team, exercise physiologists in close collaboration with specialized social pediatricians (Prof E. van der Putte and Dr S Nijhof). The research field of fysical and mental development in CF is an important part of the Healthy Play, Better Coping program, which cross-links the physical aspects in pediatrics with social and societal aspects in the Strategic Program Dynamics of Youth of the Utrecht University. The entrepreneur role of the Utrecht CF-team in the development and application of intestinal organoid-guided therapies also asks for many ethical considerations. Using both qualitative and quantitative approaches Prof A. Bredenoord pioneers the ethical topics in CF-research.

Patient participation

Being a life-long disease, CF has major impact on the lives of patients and their families. Many of the investigator initiated CF-studies in our unit have their own patient advisory board, which enables them to give feedback on study-design and results. In the Netherlands the Dutch Cystic Fibrosis Foundation (NCFS) plays a leading role in prioritizing patient-oriented research topics, study protocol review and funding. In 2016 a formal Memory of Understanding between the NCFS and UMC Utrecht was signed, confirming a preferred partnership between both parties to stimulate patient-oriented research and mutual relationships.
Together with the NCFS the CF-Center Utrecht is elaborating an innovative Patients oriented Outcome Measure (PROM), based on a 360 degrees approach. Being the coordinator of a large European Project (HIT-CF Europe) the department closely collaborates with CF-Europe, as the umbrella organization of national organizations of patients with CF.