Trial document




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  DRKS00006874

Trial Description

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Title

Genetic diagnostic for hypoglycemic diseases using next-generation sequencing

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Trial Acronym

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URL of the Trial

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Brief Summary in Lay Language

Hypoglycemia in infancy and childhood needs proper investigation and adequate treatment. If not identified in a timely manner or treated insufficiently, it is a dangerous condition which has acute and long-term consequences, in particular mental and motoric deficiencies. The variety of disorders presenting with hypoglycemia is wide. The patient´s age and medical history, his fasting tolerance as well as clinical findings and routine clinical chemistry workup may reveal critical diagnostic evidence.
Many diseases with recurrent hypoglycemic episodes are genetic diseases. Genes are the “blueprint” of the body, containing the necessary informations for intact body function. Errors may result in various diseases. Over 200 genes are known in which mutations may lead to disturbed blood glucose regulation.
Recently, new genetic techniques allow simultaneous analysis of large parts of the human genome. This will be used in our study: clinical/biochemical diagnostic workup will be performed according to common standard procedures. Additionally, we will analyse over 200 genes simultaneously.that are involved into blood glucose regulation.
Thereby, we hope to identify a clear diagnosis also in patients, in which the biochemical workup does not reveal a clear diagnosis.

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Brief Summary in Scientific Language

Hypoglycemia in infancy and childhood needs proper investigation and adequate treatment. If not identified in a timely manner or treated insufficiently, it is a dangerous condition which has acute and long-term consequences, in particular mental and motoric deficiencies. The variety of disorders presenting with hypoglycemia is wide. The patient´s age and medical history, his fasting tolerance as well as clinical findings and routine clinical chemistry workup may reveal critical diagnostic evidence.
The spectrum of diseases that may lead to hypoglycemia is wide. Over 200 genes are known in which mutations may lead to disturbed blood glucose regulation.
Recently, new genetic techniques allow simultaneous analysis of large parts of the human genome. This will be used in our study: clinical/biochemical diagnostic workup will be performed according to common standard procedures. Additionally, we will analyse over 200 genes simultaneously, that are involved into blood glucose regulation.
Conventional biochemical workup will then be compared to the broad genetic differential diagnostics. By using next-generation sequencing as a tool for differential diagnosis instead of selective conventional sequencing for confirmation of a biochemically suspected diagnosis, we hope to identify a clear genetic diagnosis also in patients in which the biochemical workup fails to reveal a clear explanation for hypoglycemia.

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Organizational Data

  •   DRKS00006874
  •   2014/11/07
  •   [---]*
  •   yes
  •   Approved
  •   4790R, Ethik-Kommission an der Medizinischen Fakultät der Heinrich-Heine-Universität Düsseldorf
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Secondary IDs

  •   U1111-1163-3247 
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Health Condition or Problem studied

  •   E16.2 -  Hypoglycaemia, unspecified
  •   E16.9 -  Disorder of pancreatic internal secretion, unspecified
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Interventions/Observational Groups

  •   conventional biochemical differential diagnostic workup, additionally genetic differential workup using next-generation sequencing
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Characteristics

  •   Interventional
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  •   Single arm study
  •   Open (masking not used)
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  •   Uncontrolled/Single arm
  •   Diagnostic
  •   Single (group)
  •   N/A
  •   N/A
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Primary Outcome

Is it possible to make an accurate genetic diagnosis by targeted next-generation sequencing in patients that are biochemically not classifiable?

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Secondary Outcome

Are there digenic diseases in this spectrum, that may not be identified by biochemical analysis and selective confirmatory sequencing of single genes?
Are there mutations in genes that are known for other forms of disturbed glucose regulation but hypoglycemia?

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Countries of Recruitment

  •   Germany
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Locations of Recruitment

  • University Medical Center 
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Recruitment

  •   Planned
  •   2014/11/01
  •   50
  •   Monocenter trial
  •   National
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Inclusion Criteria

  •   Both, male and female
  •   1   Days
  •   17   Years
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Additional Inclusion Criteria

patients with documented hypoglycemia without exogenous trigger and without proven genetic diagnosis

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Exclusion Criteria

Lack of informed consent

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Addresses

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    • Klinik für Allgemeine Pädiatrie, Neonatologie und KinderkardiologieUniversitätsklinikum Düsseldorf
    • Mr.  Dr.  Sebastian  Kummer 
    • Moorenstr. 5
    • 40225  Duesseldorf
    • Germany
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    • Klinik für Allgemeine Pädiatrie, Neonatologie und Kinderkardiologie, Universitätsklinikum Düsseldorf
    • Mr.  Dr.  Sebastian  Kummer 
    • Moorenstr. 5
    • 40225  Düsseldorf
    • Germany
    end of 1:1-Block address scientific-contact
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    • Klinik für Allgemeine Pädiatrie, Neonatologie und Kinderkardiologie, Universitätsklinikum Düsseldorf
    • Mr.  Dr.  Sebastian  Kummer 
    • Moorenstr. 5
    • 40225  Düsseldorf
    • Germany
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Sources of Monetary or Material Support

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    • Klinik für Allgemeine Pädiatrie, Neonatologie und KinderkardiologieUniversitätsklinikum Düsseldorf
    • Mr.  Dr.  Sebastian  Kummer 
    • Moorenstr. 5
    • 40225  Düsseldorf
    • Germany
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Status

  •   Recruiting planned
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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.