Trial document





This trial has been registered retrospectively.
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  DRKS00004374

Trial Description

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Title

Molecular genetic analysis of patients with coagulation disorders - especially with platelet alpha- and/or delta secretion disorder.

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Trial Acronym

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URL of the Trial

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Brief Summary in Lay Language

Often the molecular genetic analyses in patients with coagulation disorders are missing. Especially in patients with platelet alpha- and delta granula secretion defects the genetic defect is unknown. The analysis of the genetic defect is essentiell to understand the phenotype and the function of the impaired gene. Therefore, the correlation of geno- and phenotype is important.

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Brief Summary in Scientific Language

Often the molecular genetic analyses in patients with coagulation disorders are missing. Especially in patients with platelet alpha- and delta granula secretion defects the genetic defect is unknown. The analysis of the genetic defect is essentiell to understand the phenotype and the function of the impaired gene. Therefore, the correlation of geno- and phenotype is important. In 2011 an extension of the study, especially concerning platelet secretion defects was requested and the extension of the study was given by the ethic commission of the university of Freiburg on 25.08.2011

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Do you plan to share individual participant data with other researchers?

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Description IPD sharing plan:

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Organizational Data

  •   DRKS00004374
  •   2012/09/11
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  •   yes
  •   Approved
  •   44/04, Ethik-Kommission der Albert-Ludwigs-Universität Freiburg
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Secondary IDs

  •   U1111-1134-3992 
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Health Condition or Problem studied

  •   D69.1 -  Qualitative platelet defects
  •   D68.9 -  Coagulation defect, unspecified
  •   I82.9 -  Embolism and thrombosis of unspecified vein
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Interventions/Observational Groups

  •   If a platelet defect is assumed, the biochemical and then the molecular genetic defect in the patient will be analysed.
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Characteristics

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

As soon as the diagnosis of the platelet disorder has been received, the molecular genetic analysis is initiated. As soon as the results of the clinical, biochemical and molecular genetic investigations have been received, the correlation between geno- and phaenotype is initiated.

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Secondary Outcome

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Countries of Recruitment

  •   Germany
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Locations of Recruitment

  • University Medical Center 
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Recruitment

  •   Actual
  •   2010/11/01
  •   20
  •   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

increased bleeding symptoms, impaired platelet alpha- and delta-granula secretion defect

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Exclusion Criteria

lack of patient's or parents' consent for the molecular genetic diagnostics

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Addresses

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    • Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg
    • Ms.  Prof. Dr.  Barbara  Zieger 
    • Mathildenstr. 1
    • 79106  Freiburg
    • Germany
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    • Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg
    • Ms.  Prof. Dr.  Barbara  Zieger 
    • Mathildenstr. 1
    • 79106  Freiburg
    • Germany
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    • Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg
    • Ms.  Prof. Dr.  Barbara  Zieger 
    • Mathildenstr. 1
    • 79106  Freiburg
    • Germany
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Sources of Monetary or Material Support

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    • Zentrum für Kinder- und Jugendmedizin, Uniklinikum Freiburg
    • Ms.  Prof. Dr.  Barbara  Zieger 
    • Mathildenstr. 1
    • 79106  Freiburg
    • Germany
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Status

  •   Recruiting ongoing
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Trial Publications, Results and other Documents

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