Trial document




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  DRKS00011003

Trial Description

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Title

Network for Early Onset Cystic Kidney Diseases

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Trial Acronym

NEOCYST

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URL of the Trial

http://www.neocyst.de

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Brief Summary in Lay Language

Hereditary cystic kidney diseases are among the most important causes of chronic renal failure in childhood. Main difficulties in dealing with cystic kidney disease are the high phenotype and genetic variability (almost 100 known genes) and a poor renal outcome. The primary objective of the multidisciplinary network NEOCYST is to improve the life of patients and their families affected by hereditary cystic kidney diseases by increasing our knowledge of the epidemiology, genetics, molecular pathophysiology and long-term outcomes of pediatric cystic kidney disease with and without extrarenal manifestations.

In order to reach these goals, four different nation-wide clinical registries dealing with cystic kidney diseases will be integrated and matched to each other on a new common platform. This will provide the clinical information and the molecular genetics required for valid genotype-phenotype correlation analysis and the search for novel disease genes. At the same time the platform will serve as a scientific basis for multiple translational projects covering the structure of cilia, intracellular signalling and other common pathophysiological mechanisms. By applying proteomics-techniques to patients’ urine samples, we will further try to identify specific biomarkers that can help to assess the individual course of affected patients. Above this, cooperation with the Hannover Unified Biobank ensures a standardised and safe storage of precious biological specimen and facilitates future scientific work on this field. Finally the development of standard of care guidelines is supposed to standardise the clinical work-up on cystic kidney diseases and thereby improve the patients’ care.

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Brief Summary in Scientific Language

Background:
Hereditary cystic kidney diseases are among the most important causes of chronic renal failure in childhood. Main representative diseases are the autosomal recessive polycystic kidney disease (ARPKD), nephronophthisis (NPH), Bardet-Biedl-Syndrome (BBS) and the HNF1ß associated nephropathy. A high phenotypical and genetic variability as well as overlapping clinical symptoms hamper an early diagnosis and an individual prognosis of the expected disease course.

Methods:
NEOCYST is an interdisciplinary network that combines standardized clinical documentation of the different disease entities with translational research projects. Core of the project is an integrative internet platform based on the fusion of four preexisting registries (ARegPKD, NEPHREG, BBS, HNF1 ß) which creates ideal conditions for a genotype-phenotype analysis. At the same time a genetic workup on all unresolved cases will be performed via NGS analysis. A common biobank is established and creates the basis for following translational projects:
- characterization of ciliary length and structure
- characterization of disorders in planar cell polarity
- analysis of intracellular signaling pathways
- identification of disease specific marker proteins via “Urinomics” technique
- establishment of standard of care guidelines.

Objectives:
The main goal of the NEOCYST consortium is to improve the clinical management and thereby the life quality of patients suffering from early onset cystic kidney diseases. This goal should be achieved by the following objectives:
- comprising genetic and phenotypic description of early onset cystic kidney diseases
- establishment of genotype-phenotype correlations
- an improved understanding of underlying molecular pathomechanisms
- identification of disease specific marker proteins
- standardization of the diagnostic and therapeutic management by the establishment of standard of care guidelines.

Conclusion:
NEOCYST offers an approach for a wholesome characterization of early onset cystic kidney diseases with the goal of a better management of affected patients.

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Organizational Data

  •   DRKS00011003
  •   2016/09/06
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  •   yes
  •   Approved
  •   2016-284-f-S, Ethik-Kommission der Ärztekammer Westfalen-Lippe und der med. Fakultät der Westfälischen Wilhelms-Universität Münster
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Secondary IDs

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Health Condition or Problem studied

  •   Q61.1 -  Polycystic kidney, autosomal recessive
  •   Q61.3 -  Polycystic kidney, unspecified
  •   Q61.8 -  Other cystic kidney diseases
  •   Q61.9 -  Cystic kidney disease, unspecified
  •   Q87.5 -  Other congenital malformation syndromes with other skeletal changes
  •   Q87.8 -  Other specified congenital malformation syndromes, not elsewhere classified
  •   Q77.2 -  Short rib syndrome
  •   Q77.6 -  Chondroectodermal dysplasia
  •   Q77.9 -  Osteochondrodysplasia with defects of growth of tubular bones and spine, unspecified
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Interventions/Observational Groups

  •   The clinical data of all patients with the above mentioned diseases will be documented and followed-up once a year.
    Additionally they can provide biological samples and participate in diverse subprojects.
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Characteristics

  •   Non-interventional
  •   Other
  •   Single arm study
  •   Open (masking not used)
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  •   Uncontrolled/Single arm
  •   Other
  •   Single (group)
  •   N/A
  •   N/A
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Primary Outcome

The primary objective of the multidisciplinary network NEOCYST is to improve the life of patients and their families affected by hereditary cystic kidney diseases by increasing our knowledge of the epidemiology, genetics, molecular pathophysiology and long-term outcomes of pediatric cystic kidney disease with and without extrarenal manifestations.

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Secondary Outcome

not applicable

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Countries of Recruitment

  •   Germany
  •   Switzerland
  •   Austria
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Locations of Recruitment

  • other 
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Recruitment

  •   Actual
  •   2016/08/18
  •   500
  •   Multicenter trial
  •   International
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Inclusion Criteria

  •   Both, male and female
  •   no minimum age
  •   18   Years
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Additional Inclusion Criteria

all patients with the above ICD-10 codes

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Exclusion Criteria

all patients presenting other diseases than the ones presented above

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Addresses

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    • Universitätsklinikum Münster, Klinik für Kinder-und Jugendmedizin, Allgemeine Pädiatrie, Leiter Pädiatrische Nephrologie, Stellvertretender Direktor Allgemeine Pädiatrie
    • Mr.  Prof. Dr. med.  Martin  Konrad 
    • Waldeyer Str. 22
    • 48149  Münster
    • Germany
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    • Medizinische Genetik Mainz - Prof. Bergmann & Kollegen; Limbach Gruppe
    • Mr.  Prof.  Carsten  Bergmann 
    • Haifa Allee 20
    • 55128  Mainz
    • Germany
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    • Medizinische Hochschule Hannover,Klinik für Pädiatrische Nieren-, Leber- und Stoffwechselerkrankungen
    • Mr.  Prof.  Lars  Pape 
    • Carl-Neuberg-Strasse 1
    • 30625  Hannover
    • Germany
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    • Deutsches Krebsforschungszentrum (DKFZ) Heidelberg,Abteilung Medizinische Informatik in der Translationalen Onkologie
    • Mr.  PD Dr.  Martin  Lablans 
    • Im Neuheimer Feld 280
    • 69120  Heidelberg
    • Germany
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    • Universitätsklinik Köln,Allgemeine Pädiatrie
    • Mr.  PD  Max Christoph  Liebau 
    • Kerpener Straße 62, Gebäude 26
    • 50937  Köln
    • Germany
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    • Universität Heidelberg, Sektion Pädiatrische Nephrologie, Zentrum für Kinder- und Jugendmedizin
    • Mr.  Prof.  Franz  Schaefer 
    • Im Neuenheimer Feld 151
    • 69120  Heidelberg
    • Germany
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    • Medizinische Hochschule Hannover, Hannover Unified Biobank (HUB)
    • Mr.  Prof.  Thomas  Illig 
    • Feodor-Lynen-Str. 15
    • 30625  Hannover
    • Germany
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    • Universitätsklinikum Gießen und Marburg GmbH - Standort Marburg,Klinik für Kinder- und Jugendmedizin II
    • Ms.  Prof.  Stefanie  Weber 
    • Baldingerstraße
    • 35033  Marburg
    • Germany
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    • Universitätsklinikum Essen,Kinderklinik II
    • Mr.  Dr.  Metin  Cetiner 
    • Hufelandstr. 55
    • 45147  Essen
    • Germany
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    • Zentrum Innere MedizinKlinik II für Innere Medizin - Nephrologie, Rheumatologie
    • Mr.  Prof.  Bernhard  Schermer 
    • Kerpener Straße 62
    • 50937  Köln
    • Germany
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    • Albert-Ludwigs-Universitäts FreiburgInnere Medizin 4
    • Mr.  Prof.  Carsten  Bergmann 
    • Hugstetter Str. 5
    • 79106  Freiburg
    • Germany
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    • Universitätsklinikum Münster, Pädiatrische Nephrologie
    • Mr.  Dr. med.  Jens  König 
    • Waldeyer Str.22
    • 48149  Münster
    • Germany
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    • Universitätsklinikum Münster, Pädiatrische Nephrologie
    • Mr.  Dr. med.  Jens  König 
    • Waldeyer Str.22
    • 48149  Münster
    • Germany
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Sources of Monetary or Material Support

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    • Bundesministerium für Bildung und Forschung Dienstsitz Bonn
    • Heinemannstr. 2
    • 53175  Bonn
    • Germany
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Status

  •   Recruiting ongoing
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Trial Publications, Results and other Documents

  •   Wolf MT, Nephronophthisis and related syndromes, CurrOpin Pediatr. 2015 Apr;27(2):201-11.
  •   Bergmann C. ARPKD and early manifestations of ADPKD:the original polycystic kidney disease and phenocopiesPediatr Nephrol. 2015 Jan;30(1):15-30. doi:10.1007/s00467-013-2706-2. PubMed PMID: 24584572;
  •   Clissold RL, Hamilton AJ, Hattersley AT, Ellard S,Bingham C. HNF1B-associated renal and extra-renaldisease-an expanding clinical spectrum. Nat RevNephrol. 2015 Feb;11(2):102-12. doi: PMID: 25536396.
  •   Verhave JC, Bech AP, Wetzels JF, Nijenhuis T. HepatocyteNuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. J Am Soc Nephrol. 2016 Feb;27(2):345-53. doi: 10.168; PMID: 26319241;
  •   Habbig S, Liebau MC. Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function. Mol Cell Pediatr. 2015 Dec;2(1):8; PMID: 26542298;
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* This entry means the parameter is not applicable or has not been set.