BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic inherited kidney disease, affecting an estimated 600 000 individuals in Europe. The disease is characterized by age-dependent development of a multiple cysts in the kidneys, ultimately leading to end-stage renal failure and the need of renal replacement therapy in the majority of patients, typically by the fifth or sixth decade of life. The variable disease course, even within the same family, remains largely unexplained. Similarly, assessing disease severity and prognosis in an individual with ADPKD remains difficult. Epidemiological studies are limited due to the fragmentation of ADPKD research in Europe. METHODS: The EuroCYST initiative aims: (i) to harmonize and develop common standards for ADPKD research by starting a collaborative effort to build a network of ADPKD reference centres across Europe and (ii) to establish a multicentric observational cohort of ADPKD patients. This cohort will be used to study factors influencing the rate of disease progression, disease modifiers, disease stage-specific morbidity and mortality, health economic issues and to identify predictive disease progression markers. Overall, 1100 patients will be enrolled in 14 study sites across Europe. Patients will be prospectively followed for at least 3 years. Eligible patients will not have participated in a pharmaceutical clinical trial 1 year before enrollment, have clinically proven ADPKD, an estimated glomerular filtration rate (eGFR) of 30 mL/min/1.73 m(2) and above, and be able to provide written informed consent. The baseline visit will include a physical examination and collection of blood, urine and DNA for biomarker and genetic studies. In addition, all participants will be asked to complete questionnaires detailing self-reported health status, quality of life, socioeconomic status, health-care use and reproductive planning. All subjects will undergo annual follow-up. A magnetic resonance imaging (MRI) scan will be carried out at baseline, and patients are encouraged to undergo a second MRI at 3-year follow-up for qualitative and quantitative kidney and liver assessments. CONCLUSIONS: The ADPKD reference centre network across Europe and the observational cohort study will enable European ADPKD researchers to gain insights into the natural history, heterogeneity and associated complications of the disease as well as how it affects the lives of patients across Europe.

Academic Department of Medical Genetics University of Cambridge Cambridge UK

Department of Internal Medicine 4 University Medical Center Freiburg Freiburg Germany

Department of Nephrology 1st Faculty of Medicine Charles University Prague Czech Republic

Department of Nephrology and Hypertension Friedrich Alexander Universität Erlangen Nürnberg Erlangen Germany

Department of Nephrology Centre Hospitalier Universitaire de Brest Brest France

Department of Nephrology Charité Campus Mitte Charité Universitätsmedizin Berlin Berlin Germany

Department of Nephrology Cliniques Universitaires Saint Luc Brussel Belgium

Department of Nephrology Istanbul School of Medicine Istanbul Turkey

Department of Nephrology University Medical Center Groningen University of Groningen Groningen The Netherlands

Division of Nephrology University Hospital Zurich Zurich Switzerland

Inherited Kidney Diseases Nephrology Department Fundació Puigvert Instituto de Investigaciones Biomédicas Sant Pau Universitat Autònoma de Barcelona REDinREN Instituto de Investigación Carlos 3 Barcelona Spain

Institute of Physiology and Zurich Center for Integrative Human Physiology University of Zurich Zurich Switzerland

Institute of Physiology and Zurich Center for Integrative Human Physiology University of Zurich Zurich Switzerland Division of Nephrology University Hospital Zurich Zurich Switzerland

IRCCS Istituto di Ricerche Farmacologiche Mario Negri Centro Anna Maria Astori Bergamo Italy and Unit of Nephrology Dialysis and Transplantation A O Papa Giovanni XXIII Bergamo Italy

Kidney Genetics Group Academic Nephrology Unit Department of Infection and Immunity University of Sheffield Medical School Sheffield UK

Service de nephrologie et immunologie clinique centre de reference des maladies renales rares CHU de Toulouse universite' de Toulouse 3 hopital Rangueil

Nephrol Dial Transplant. 2014 Dec;29(12):2353 PubMed

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