EBGen study




Title: Study of immune tolerance and capacity for wound healing of patients with Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Launch in April 2013 this study aims to investigate the immune response towards type VII collagen and the proliferative capacity of primary keratinocytes and fibroblasts. This will allow to better understand the consequences of COL7A1 mutations on patients’ immune tolerance towards type VII collagen, and to investigate the patients capacity for wound healing. Patients will be enrolled from three large cohorts of more than 300 patients referenced in London at the St John’s  Institute of Dermatology (Prof. John McGrath and Dr. Alya Abdul- Wahab), and in Paris at both the MAGEC center (Prof. Christine Bodemer) and the Diagnostic Centre for genetic skin diseases (Prof. Alain Hovnanian) at Necker Hospital.

  1. Primary objectiveTo assess the proliferative capacity of keratinocytes and fibroblasts in characterized RDEB patients
  2. Secondary objectives


  • To assess clinical, molecular and biochemical features of up to 30 RDEB patients.
  • To assess the immune response towards type VII collagen of up to 30 RDEB patients.
  • HLA genotyping and in silico prediction of HLA binding to the missing type VII collagen epitope(s)


Recruitment status


  • The United Kingdom: 6 patients
  • France: 4 patients

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