Trial document





This trial has been registered retrospectively.
drksid header

  DRKS00012891

Trial Description

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Title

Registry for patients with hereditary kidney stone disease

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Trial Acronym

GeneStoneReg

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URL of the Trial

http://www.dgfn.eu/aerzte/register/hereditaere-nierensteinleiden.html

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Brief Summary in Lay Language

Kidney stone disease is a major health burden, and associated with significant morbidity and progression to chronic kidney disease due to recurrence and concomitant inflammation. In addition to environmental factors, genetic predisposition plays a major role in kidney stone formation. For a better documentation and detection of genetic causes we initiated a clinical patient registry for hereditary nephrolithiasis at the University of Leipzig. In the study we include patients with kidney stones who are likely to have a genetic predisposition. The aim is to establish a German-wide registry for hereditary kidney stone disease.

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Brief Summary in Scientific Language

With a lifetime prevalence of about 10%, nephrolithiasis is a major health burden, and associated with significant morbidity and progression to chronic kidney disease due to recurrence and concomitant inflammation. In addition to environmental factors, genetic susceptibility plays a major role for stone formation. For a better documentation and detection of genetic causes we initiated a clinical patient registry for hereditary nephrolithiasis at the University of Leipzig. We collect data to describe prevalence of monogenic forms of kidney stone disease, its clinical progression, and correlation with the identified genotype. In the study we include patients with nephrolithiasis who are likely to have a genetic susceptibility. The aim is to establish a German-wide registry for hereditary kidney stone disease.

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Organizational Data

  •   DRKS00012891
  •   2017/08/18
  •   [---]*
  •   yes
  •   Approved
  •   159/14-ff, Ethikkommission an der Medizinischen Fakultät der Universität Leipzig
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Secondary IDs

  • [---]*
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Health Condition or Problem studied

  •   N20 -  Calculus of kidney and ureter
  •   E83.5 -  Disorders of calcium metabolism
  •   E72.0 -  Disorders of amino-acid transport
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Interventions/Observational Groups

  •   With the help of a recruiting physician, patients with nephrolithiasis fill in a clinical questionnaire comprising information on family history, lifestyle, phenotype, and treatment. Biochemical parameters (urine and serum) as well as stone composition are analyzed for study recruitment. For DNA extraction and mutation analysis, a blood sample is taken.
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Characteristics

  •   Non-interventional
  •   Epidemiological study
  •   Single arm study
  •   Open (masking not used)
  •   [---]*
  •   Uncontrolled/Single arm
  •   Screening
  •   Single (group)
  •   N/A
  •   [---]*
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Primary Outcome

Mutation analysis of more than 30 known monogenic causes and phenotyping by using a clinical questionnaire and analysis of biochemical parameters in urine and serum, as well as stone composition.

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Secondary Outcome

Identification of novel genetic causes by genome/exome-wide mutation analysis in selected unresolved cases from consanguineous/multiplex families with nephrolithiasis. Furthermore mutation analysis of candidate genes in remaining unresolved cases.

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Countries of Recruitment

  •   Germany
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Locations of Recruitment

  • University Medical Center 
  • University Medical Center 
  • University Medical Center 
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Recruitment

  •   Actual
  •   2014/10/01
  •   4000
  •   Multicenter trial
  •   National
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Inclusion Criteria

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

First manifestation before age of 40 years or
positive family history (first grade) or
at least 3 recurrent stones or
specific hereditary phenotype (e.g. cystinuria, nephrocalcinosis) or
present genetic diagnose of hereditary kidney stone disease

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Exclusion Criteria

Patients with secondary kidney stone disease, for instance due to primary hyperparathyroidism, malignoma, or sarcoidosis.

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Addresses

  • start of 1:1-Block address primary-sponsor
    • Universitätsklinikum Leipzig, Klinik und Poliklinik für Endokrinologie und Nephrologie
    • Mr.  PD Dr. med. habil.  Jan  Halbritter 
    • Liebigstraße 20
    • 04103  Leipzig
    • Germany
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    • Universitätsklinikum Freiburg,Department Chirurgie,Klinik für Urologie
    • Mr.  PD Dr. med.  Martin  Schönthaler 
    • Hugstetter Straße 55
    • 79106  Freiburg
    • Germany
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    •   [---]*
    •   [---]*
    •   [---]*
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    • Universitätsklinikum Bonn,Pädiatrische Nephrologie
    • Mr.  Prof.  Bernd  Hoppe 
    • Adenauerallee 119
    • 53113  Bonn
    • Germany
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    •   [---]*
    •   [---]*
    •   [---]*
    •   [---]*
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    • Universitätsklinikum Leipzig, Klinik II für Innere Medizin

    • Mr.  PD  Roman-Ulrich  Müller 
    • Kerpener Str. 62
    • 50937  Köln
    • Germany
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    •   [---]*
    •   [---]*
    •   [---]*
    •   [---]*
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    • Universitätsklinikum Leipzig, Klinik und Poliklinik für Endokrinologie und Nephrologie
    • Mr.  PD Dr. med. habil.  Jan  Halbritter 
    • Liebigstraße 20
    • 04103  Leipzig
    • Germany
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    • Universitätsklinikum Leipzig, Klinik und Poliklinik für Endokrinologie und Nephrologie
    • Mr.  PD Dr. med. habil.  Jan  Halbritter 
    • Liebigstraße 20
    • 04103  Leipzig
    • Germany
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Sources of Monetary or Material Support

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    • Deutsche Forschungsgemeinschaft
    • Kennedyallee 40
    • 53175  Bonn
    • Germany
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  • start of 1:1-Block address otherSupport
    • Else Kröner-Fresenius-Stiftung
    • Postfach 1852
    • 61288  Bad Homburg v.d.H
    • Germany
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Status

  •   Recruiting ongoing
  •   [---]*
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Trial Publications, Results and other Documents

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* This entry means the parameter is not applicable or has not been set.