Rationale, design and objectives of ARegPKD, a European ARPKD registry study.

Kathrin Ebner, Markus Feldkoetter, Gema Ariceta, Carsten Bergmann, Reinhard Buettner, Anke Doyon, Ali Duzova, Heike Goebel, Dieter Haffner, Barbara Hero, Bernd Hoppe, Thomas Illig, Augustina Jankauskiene, Norman Klopp, Jens König, Mieczyslaw Litwin, Djalila Mekahli, Bruno Ranchin, Anja Sander, Sara Testa, Lutz Thorsten Weber, Dorota Wicher, Ayse Yuzbasioglu, Klaus Zerres, Jörg Dötsch, Franz Schaefer, Max Christoph Liebau

Journal: BMC nephrology 2016;16():22

PMID: 25886171

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Abstract

BACKGROUND

Autosomal recessive polycystic kidney disease (ARPKD) is a rare but frequently severe disorder that is typically characterized by cystic kidneys and congenital hepatic fibrosis but displays pronounced phenotypic heterogeneity. ARPKD is among the most important causes for pediatric end stage renal disease and a leading reason for liver-, kidney- or combined liver kidney transplantation in childhood. The underlying pathophysiology, the mechanisms resulting in the observed clinical heterogeneity and the long-term clinical evolution of patients remain poorly understood. Current treatment approaches continue to be largely symptomatic and opinion-based even in most-advanced medical centers. While large clinical trials for the frequent and mostly adult onset autosomal dominant polycystic kidney diseases have recently been conducted, therapeutic initiatives for ARPKD are facing the challenge of small and clinically variable cohorts for which reliable end points are hard to establish.

METHODS/DESIGN

ARegPKD is an international, mostly European, observational study to deeply phenotype ARPKD patients in a pro- and retrospective fashion. This registry study is conducted with the support of the German Society for Pediatric Nephrology (GPN) and the European Study Consortium for Chronic Kidney Disorders Affecting Pediatric Patients (ESCAPE Network). ARegPKD clinically characterizes long-term ARPKD courses by a web-based approach that uses detailed basic data questionnaires in combination with yearly follow-up visits. Clinical data collection is accompanied by associated biobanking and reference histology, thus setting roots for future translational research.

DISCUSSION

The novel registry study ARegPKD aims to characterize miscellaneous subcohorts and to compare the applied treatment options in a large cohort of deeply characterized patients. ARegPKD will thus provide evidence base for clinical treatment decisions and contribute to the pathophysiological understanding of this severe inherited disorder.

Address: Department of Pediatrics, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. [email protected].; Department of Pediatrics, University Hospital Bonn, Adenauerallee 119, 53113, Bonn, Germany. [email protected].; Department of Pediatric Nephrology, University Hospital Vall d'Hebron, Pg/Vall d' Hebron 119-129, 08034, Barcelona, Spain. [email protected].; Bioscientia Center for Human Genetics, Konrad-Adenauer-Straße 17, 55218, Ingelheim, Germany. [email protected].; Renal Division, Department of Medicine, University Freiburg Medical Center, Hugstetter Straße 55, 79106, Freiburg, Germany. [email protected].; Institute of Pathology, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. [email protected].; Division of Pediatric Nephrology, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. [email protected].; Department of Pediatrics, Division of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Sihhiye, 06100, Ankara, Turkey. [email protected].; Institute of Pathology, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. [email protected].; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany. [email protected].; Department of Pediatrics, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. [email protected].; Department of Pediatrics, University Hospital Bonn, Adenauerallee 119, 53113, Bonn, Germany. [email protected].; Hannover Unified Biobank, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany. [email protected].; Institute for Human Genetics, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany. [email protected].; Vilnius University Hospital, Center for Pediatrics, Santariskiu, 08406, Vilnius, Lithuania. [email protected].; Hannover Unified Biobank, Hannover Medical School, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany. [email protected].; Department of General Pediatrics, University Hospital Münster, Waldeyerstr. 22, 48149, Muenster, Germany. [email protected].; The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland. [email protected].; Department of Pediatric Nephrology, University Hospitals Leuven, Herestrtaat 49, 3000, Leuven, Belgium. [email protected].; Service de Néphrologie Pédiatrique, Hospices Civils de Lyon, Université de Lyon, Hôpital Femme Mère Enfant, 69677, Bron, France. [email protected].; Institute of Medical Biometry and Informatics, University of Heidelberg, Im Neuenheimer Feld 305, 69120, Heidelberg, Germany. [email protected].; Pediatric Nephrology Unit, Fondazione IRCCS Ca Granda Ospedale Maggiore Polic, Via della Commenda 9, 20122, Milano, Italy. [email protected].; Department of Pediatrics, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. [email protected].; The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland. [email protected].; Department of Medical Biology, Center for Biobanking and Genomics, Hacettepe University, Ankara, Turkey. [email protected].; Institute of Human Genetics, RWTH University Hospital Aachen, Pauwelsstrasse 30, 52074, Aachen, Germany. [email protected].; Department of Pediatrics, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. [email protected].; Division of Pediatric Nephrology, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. [email protected].; Department of Pediatrics, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany. [email protected].; Center for Molecular Medicine, University Hospital of Cologne, Robert-Koch-Str. 21, 50931, Cologne, Germany. [email protected].; Nephrology Research Laboratory, Department II of Internal Medicine, University Hospital of Cologne, CECAD Building, Joseph-Stelzmann-Str. 26, 50931, Cologne, Germany. [email protected].

DOI: 10.1186/s12882-015-0002-z

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MeSH Terms: Adult, Biological Specimen Banks, Child, Disease Progression, Europe, Female, Genetic Diseases, Inborn, Humans, Internationality, Internet, Kidney Failure, Chronic, Liver Cirrhosis, Male, Polycystic Kidney, Autosomal Recessive, Quality Control, Registries, Research Design, Sensitivity and Specificity, Severity of Illness Index