The European Rare Kidney Disease Reference Network


Research Project

Project Title:

NEOCYST (Network of Early Onset CYSTic kidney diseases)

Project Type:

Adjunct biobank: DNA, Serum, Plasma, Urine

Disease group(s):

AD structural kidney disorders, Renal malformations

Project Summary:

NEOCYST is a multidisciplinary scientific network study dedicated to hereditary cystic kidney diseases in childhood. Hereditary cystic kidney diseases are among the most important causes of chronic renal failure in childhood. The main representatives are nephronophthisis and related ciliopathies (NPH-RC), autosomal recessive polycystic kidney disease (ARPKD), HNF1ß nephropathy and Bardet-Biedl syndrome. Major difficulties in dealing with these diseases are the high phenotypic and genetic variability and a poor renal outcome.

The goal of the NEOCYST consortium is to improve the life of affected patients and their families by increasing the knowledge on epidemiology, phenotypic presentations, genetics, molecular pathophysiology and long-term outcomes regarding the renal survival as well as the impact of extrarenal manifestations.

In order to reach these goals, the study comprises the following seven multidisciplinary work-packages:

WP 1: central coordination of the NEOCYST consortium
WP2: online-based prospective clinical registry trial comprising clinical and genetic information
WP3: genetic characterization
WP4: development of standard-of-care-guidelines
WP5: molecular characterization of cystic nephropathies
- structural and functional characterization of cilia in affected patients
- investigations on intracellular signalling pathways
- characterization of epithelial function, cell adhesion and epithelial morphogenesis
WP6: identification of disease-specific proteome patterns
WP7: establishment of a common biobank

Lead principal investigator(s):

Martin Konrad, Münster


Jens Koenig, Münster
Stefanie Weber, Marburg
Metin Cetiner, Essen
Max Liebau, Cologne
Bernhard Schermer, Cologne
Martin Lablans, Heidelberg
Carsten Bergmann, Ingelheim
Franz Schaefer, Heidelberg
Charlotte Gimpel, Freiburg
Dieter Haffner, Hannover

Project Period:

02/2016   -   01/2019


National funding agency

Project web page:

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