Research for Rare - Research for rare diseases

NEOCYST - Network of Early Onset Cystic Kidney Disease

What are hereditary cystic kidney diseases?

Hereditary cystic kidney diseases are among the most relevant causes of chronic kidney failure in childhood. The term “cystic kidney disease” covers a variety of disease entities, all of which are characterized by a slowly progressive loss of kidney function – in some cases accompanied by other organ manifestations. Autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis (NPH) and nephronophthisis-related ciliopathies (NPH-RC) as well as the HNF1b nephropathy must be mentioned as the most relevant representatives. At the molecular level, pathogenic variants in more than 70 so-called ciliary genes have been identified, which then again have an impact on various biological processes and signaling pathways. Most of the mentioned disease entities manifest in early childhood, sometimes even before birth. Although each of the single entities is extremely rare, as a group they account for around 500-700 affected children and adolescents in Germany.

In recent years, global research activities have led to a significantly improved molecular understanding with the NEOCYST network contributing in many ways. However, there is still a major and unmet need for reliable prognostic models predicting individual disease courses and most of all for promising and effective therapeutic approaches.

Joint research in the NEOCYST network

The NEOCYST network is tackling these challenges by combining continued rapid development at the molecular level with improved clinical recording of individual disease courses and thus transferring molecular findings to patient care.
Based on the infrastructure established in the first project phase 2016-2019 (patient database, biobank, web portal) with currently more than 700 registered patients and more than 3.500 biosamples in stock, many scientific studies have been carried out and published. Those activities have contributed majoryly to an improved molecular, genetic and in particular phenotypic characterisation of renal ciliopathies and hereditary cystic kidney diseases allowing genotype-phenotype correlations.
Thanks to its successful work so far, the NEOCYST research network will continue to be funded by the German Federal Ministry of Research and Education (BMBF). The current activities will focus on both an improved predictability of individual disease progression using innovative prognostic tools and biomarkers as well as on the identification of promising therapeutic targets. Overall, it is the aim to establish clinical trial readiness to be prepared for future therapeutic interventions.

As an active partner of the European Reference Network for Rare Kidney Diseases (ERKNet) and the European THERACIL research initiative, the NEOCYST consortium is widely perceived and extensively linked on an international level.

Coordinating investigator:
Dr. Jens König
University Children‘s Hospital Münster
Waldeyerstrasse 22
48149 Münster
Tel: +49-251-8356213



Website: Research Network NEOCYST

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