Trial document




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  DRKS00000064

Trial Description

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Title

Molecular epidemiologie of autosomal dominant polycystic kidney (ADPKD)

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Trial Acronym

Epidemiologie der ADPKD

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URL of the Trial

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Brief Summary in Lay Language

Autosomal dominant polycystic kidney disease (ADPKD) affects about 10% of dialysis patients and is estimated to occur in up to 1:500 subjects in the general population. The disease is cause by a mutation in one of 2 genes. These susceptibility genes are PKD1 located on chromosome 16p13.3 (MIM601313) and the PKD2 Gen located on chromosome 4q21(MIM173910). Both genes are identified. Scientific research will in future be necessarily based on patients identified with the underlying germline mutations. With this study we aim to identify these germline mutations in a cohort of 2.000 ADPKD patients in Germany. In a second step we intend to identify about 8.000 affected relatives in addition. A database will be created with demographic and clinical informations on each patient. We expect that our project will provide with an important platform for ADPKD relevant scientific and clinical trials.

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Brief Summary in Scientific Language

Autosomal dominant polycystic kidney disease (ADPKD) affects about 10% of dialysis patients and is estimated to occur in up to 1:500 subjects in the general population. The disease is cause by a mutation in one of 2 genes. These susceptibility genes are PKD1 located on chromosome 16p13.3 (MIM 601313) and the PKD2 Gen located on chromosome 4q21(MIM 173910). Both genes are identified. Scientific research will in future be necessarily based on patients identified with the underlying germline mutations. With this study we aim to identify these germline mutations in a cohort of 2.000 ADPKD patients in Germany. In a second step we intend to identify about 8.000 affected relatives in addition. A database will be created with demographic and clinical informations on each patient. We expect that our project will provide with an important platform for ADPKD relevant scientific and clinical trials.

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Organizational Data

  •   DRKS00000064
  •   2009/01/21
  •   2008/12/23
  •   yes
  •   Approved
  •   247/03, Ethik-Kommission der Albert-Ludwigs-Universität Freiburg
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Secondary IDs

  •   UKF001750  (Register Klinischer Studien des Universitätsklinikums Freiburg)
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Health Condition or Problem studied

  •   autosomal dominant polycystic kidney disease
  •   Q61.2 -  Polycystic kidney, autosomal dominant
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Interventions/Observational Groups

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Characteristics

  •   Non-interventional
  •   Observational study
  •   Single arm study
  •   Open (masking not used)
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  •   Uncontrolled/Single arm
  •   Diagnostic
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Primary Outcome

Detection of germline mutations in the susceptibility genes PKD1 and PKD2. Biometric estimations for the general population.

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Secondary Outcome

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Countries of Recruitment

  •   Germany
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Locations of Recruitment

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Recruitment

  •   Actual
  •   2008/12/09
  •   2000
  •   Monocenter trial
  •   National
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Inclusion Criteria

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

Patients with polycystic kidney disease diagnosed by ultrasonography, CT scan or Magnetic resonance imaging. Family members with and without PKD.

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Exclusion Criteria

Polycystic kidney disorder not confirmed.

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Addresses

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    • Universitätsklinikum Freiburg
    • Hugstetter Str. 55
    • 79106 
    • Germany
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    • Universitätsklinikum Freiburg Innere Medizin - Nephrologie und Allgemeinmedizin
    • Mr.  Prof. Dr. med.  Hartmut  Neumann 
    • Hugstetter Str. 55
    • 79106  Freiburg
    • Germany
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    • Universitätsklinikum Freiburg
    • Ms.  Zinaida  Nabulsi 
    • Hugstetter Str. 55
    • 79106  Freiburg
    • Germany
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Sources of Monetary or Material Support

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    • Else Kröner-Fresenius-Stiftung
    • Am Pilgerrain 15
    • 61352  Bad Homburg v.d.H
    • Germany
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Status

  •   Recruiting complete, follow-up complete
  •   2013/01/20
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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.