P2 – CLINICAL REGISTRY AND INTERNET PLATFORM

Participating Centers

Primary Tasks and Objectives

Creation of an informational online platform for affected patients and their families as well as treating physicians and participating centers
Implementation of an online based patient registry for early onset polycystic kidney disease.
Fusion of preexisting registries on nephronophthisis, BBS, HNF1ß Nephropathy and adjustment with ARegPKD
Analysis of preexisting data and comparison of different disease entities
prospective, longitudinal data collection

Leading Investigators

	Dr. med. Jens König Consultant Pediatric Nephrology, University Hospital Münster NEOCYST – Principal investigator Coordination of all NEOCYST Projects. Jens König is a pediatric nephrologist and works as a consultant at the Department of Pediatrics at the University Hospital of Münster. The scientific focus of Jens König lies on cystic kidney diseases of the childhood with a special expertise on nephronophthisis (NPH) and NPH related ciliopathies (NPH-RC). To this end he established and heads a prospective national registry on NPH and related ciliopathies (www.nephreg.de) and was able to collect clinical and genetic data on more than 150 patients so far. This clinical registry functions as a core feature of the newly established NEOCYST registry study. Within the NEOCYST consortium Jens König is responsible for the central coordination of the consortium and has the lead of subproject P1.
	Prof. Dr. med. Martin Konrad *Director Pediatric Nephrology, University Hospital Münster* NEOCYST – Principal investigator Prof. M. Konrad and his group built up a research unit integrating clinical, genetic and physiologic research activities dealing with inherited renal tubular disorders. They identified several gene defects (TRPM6, digenic CLCNKA/B mutations, CLDN19, CYP24A1) and established clear-cut genotype/phenotype correlations. From 1996-2000, these studies were carried out by a European Consortium for Bartter syndrome. The group of Dr. Konrad has collected one of the largest patient cohorts worldwide (>500 patients) as a basis for successful continuation of this approach. Together, the Münster group has set-up a web-based patient registry for nephronophthisis and related disorders with the official support of the GPN in 2011 (www.nephreg.de), which harbours 131 patients at the Moment.
	Mareike Dahmer-Heath *Research Officer, University Hospital Münster* NEOCYST – Consortium Manager Project coordination Public relations Data validation, analysis and publication
	Sabine Kollmann *Study Nurse, University Hospital Münster* Recruitment of clinical data and biological samples Data documentation and validation Coordination of patients Organization of study
	Prof. Dr. med. Stefanie Weber Director of University Clinic for Pediatric and Adolescent Medicine of Gießen/Marburg Responsible for HNF1ß – Register and implementation into NEOCYST The group of S. Weber has successfully been working on the biology and genetics of renal development since many years. She also identified the first human mutations in BMP4 and SIX2 in children with renal hypodysplasia. In 2012, S. Weber established a national registry of HNF1B nephropathy, supported by the GPN. Empowered by the Working Group CAKUT of the European Society of Pediatric Nephrology ESPN, the group of S. Weber is working on the implementation of a European registry of familial CAKUT cases.
	PD Dr. med. Max Liebau Consultant General Pediatrics, University of Cologne Max Liebau is a trained pediatric nephrologist and a consultant at the Department of Pediatrics at the University Hospital of Cologne. He combines his clinical training with his experience in cellular and molecular biology during a postdoc in the nephrological research laboratory in Freiburg and Cologne. While his previous work was on the molecular pathogenesis of nephronophthisis-related ciliopathies his own group now focuses on ARPKD and fibrocystin. To this end Dr Liebau is heading ARegPKD, the European ARPKD registry study. Dr Liebau received multiple national and international honors and awards, incl. the Adalbert-Czerny-Award, the highest scientific award in German Pediatrics.
	Dr. med. Metin Cetiner Consultant Pediatric Nephrology, University Hospital Essen Responsible for BBS – Register and implementation into NEOCYST
	Dr. Holger Storf Head of Medical Informatics Group (MIG), University Hospital Frankfurt Technical realization of the online NEOCYST Registry based on OSSE an Human Phenotype Ontology Technical realization of the web page
	Jens Göbel Software developer, Medical Informatics Group (MIG), University Hospital Frankfurt Technical realization of the online NEOCYST Registry based on OSSE an Human Phenotype Ontology Technical realization of the web page
	Dr. Jessica Vasseur Research Officer, Medical Informatics Group (MIG), University Hospital Frankfurt project coordination