SUMMARY OF RESEARCH BEING UNDERTAKEN

This project is aimed at the treatment of the recessive form of dystrophic EB (RDEB) by the ex-vivo transfer of a curative collagen VII gene into the patient’s keratinocytes. Previous studies by the group in the laboratory have demonstrated the feasibility of the gene therapy approach that is proposed. In fact, in the laboratory the group can efficiently restore the expression of normal collagen VII (the protein that when defective results in the symptoms of EB) in the keratinocytes of DEB patients and animals and then construct replacement skin, which has the characteristics of normal skin.

EB also occurs in animals as well as humans and the group have access to dogs with a naturally occurring form of mild recessive dystrophic EB. This provides the opportunity to perform preclinical tests of gene therapy in controlled conditions, similar to the clinical trials that will be developed for patients with RDEB. This is a prerequisite that is required to validate the procedures before permission can be obtained to treat human patients with RDEB.