Trial document





This trial has been registered retrospectively.
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  DRKS00004362

Trial Description

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Title

Somatic mosaicism in skin fragility disorders: mechanisms and therapeutic perspectives

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Trial Acronym

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URL of the Trial

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Brief Summary in Lay Language

Revertant mosaicism is a phenomenon observed in patients with genetic disorders, characterized by the gain of the wild-type phenotype in a subpopulation of the patient's cells through genetic mechanisms. In patients with genetic skin disorders this is shown by patches of normal skin next to diseased skin. We plan to analyse this phenomenon further, especially the underlying molecular-genetic mechanisms. Further, we want to investigate these naturally-corrected skin cells to be able to use them for future therapy studies.

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Brief Summary in Scientific Language

Revertant mosaicism, also called ‘natural gene therapy’ has been reported in several inherited disorders, including the epidermolysis bullosa (EB) group. EB is characterized by blistering of the skin after minor trauma and is caused by mutations in components of the dermal-epidermal adhesion complexes. We have identified revertant mosaicism in patients with severe and mild forms of junctional EB, dystrophic EB and Kindler syndrome. The objective of this application is to generate new knowledge on the molecular mechanisms that underlie revertant mosaicism in skin fragility disorders. This research will help improve our understanding on the role of the proteins that are important for skin integrity and on the significance of the reverted cells as disease modifying factors and therapeutic agents. We will identify more patients with the three major EB forms and revertant mosaicism, disclose the underlying molecular mechanisms and elucidate how the reversion mechanism is linked to the patients’ gene defect. We plan to optimize isolation and growth conditions for reverted keratinocytes with the goal of establishing cell therapy with the patients’ own naturally corrected cells.

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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

  •   DRKS00004362
  •   2013/06/24
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  •   yes
  •   Approved
  •   360/12, Ethik-Kommission der Albert-Ludwigs-Universität Freiburg
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Secondary IDs

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Health Condition or Problem studied

  •   Epidermolysis bullosa
  •   Q81 -  Epidermolysis bullosa
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Interventions/Observational Groups

  •   Patients with epidermolysis bullosa will be examined in the Department of Dermatology, University Medical Center Freiburg. For diagnostic purposes a skin biopsy will be attained. Further, patients will be asked specifically for areas of unaffected skin. After informed consent and thorough photodocumentation a biopsy from such an area will be obtained to define the presence of revertant mosaicism. From both biopsies skin cells will be isolated and cultured and the biopsies will be analysed on molecular-genetic level for identification of the reversion mechanism.
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Characteristics

  •   Non-interventional
  •   Other
  •   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

Better understanding of revertant mosaicism

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Secondary Outcome

To be able to develop therapy approaches for patients with epidermolysis bullosa based on revertant skin cells

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Countries of Recruitment

  •   Germany
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Locations of Recruitment

  • University Medical Center 
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Recruitment

  •   Actual
  •   2013/05/01
  •   20
  •   Monocenter 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

Patients with epidermolysis bullosa

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Exclusion Criteria

none

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Addresses

  • start of 1:1-Block address primary-sponsor
    • Klinik für Dermatologie und Venerologie
    • Ms.  Dr. med.  Dimitra  Kiritsi 
    • Hauptstrasse 7
    • 79104  Freiburg
    • Germany
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    • Klinik für Dermatologie und Venerologie
    • Ms.  Dr. med.  Dimitra  Kiritsi 
    • Hauptstrasse 7
    • 79104  Freiburg
    • Germany
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    • Klinik für Dermatologie und Venerologie
    • Ms.  Dr. med.  Dimitra  Kiritsi 
    • Hauptstrasse 7
    • 79104  Freiburg
    • 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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Status

  •   Recruiting ongoing
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Trial Publications, Results and other Documents

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