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NEOCYST is a multidisciplinary network of clinicians, geneticists and researchers joined by the common aim of improving the lives of patients and their family’s affected by congenital and hereditary cystic kidney disorders. The network will advance the understanding of the demographics, phenotypes and outcomes, genetic origins and molecular pathomechanisms of cystic kidney diseases manifesting during childhood with/without extrarenal manifestations. The integration of several nation-wide clinical registries under the common heading “cystic kidney diseases” will provide the clinical information and the molecular genetics required for valid genotype-phenotype correlation analyses and the search for novel genes.

The parallel establishment of a biobank will serve as a platform for disease-specific translational research and the identification of common pathways relevant to cyst formation and disease progression with a special focus on cilia length control, signal transduction, and planar cell polarity using human biological material. A broad array of innovative technologies will be employed, ranging from online registry management, standardized phenotyping using Human Phenotype Ontology and platform-based diagnostic genotyping to high-throughput whole-exome sequencing. Collaboration with international networks will provide the critical patient mass required to produce an improved evidence base for the diagnostic management and the development of novel therapeutic approaches in early onset cystic kidney diseases.

In the focus of the biomaterial biobank subproject is the set-up of a biomaterial collection of patients with early onset cystic kidney.

The collection contains body liquids as EDTA blood for plasma, DNA, serum, urine and primary cells. Within 3 years approx. 200 patients will take part in this project, 60 patients will be recruited per year through 6 clinical centers of the NEOCYST consortium and their collaborating centers. The patients will come to follow-up visits.

Through harmonized SOPs the sample collection, processing and storage and shipping is standardized according to the German Center for Lung Research (DZL), TMF and ISBER standard. The samples will be aliquotted in 2D barcode cryovials and frozen at the clinical site. The sample registration occurs in a web based registration tool. The sample aliquots from each clinical site will be sent in batch frozen to the Hannover Unified Biobank (HUB). In HUB the sample will be registered, controlled and stored fully automated in a -80°C repository. Two-thirds of the sample will be transferred for long-term storage in the gas phase of a liquid nitrogen tank. One-third will be left in the automated repository for quick sample access for subprojects of the consortium.

All processes are supported by modern, secure IT solutions and comply the TMF data security concepts. A central study registry will be set up to hold all patient related phenotype data. Pseudonymization is achieved through a separate Master Patient Index, which can provide a 2nd step of pseudonymization on datasets, which are intended for external analyzing.


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