Current status of biomedical products for gene and cellular therapy of recessive dystrophic epidermolysis bullosa (part I)

A detailed review of current products and innovative strategies of gene and cellular therapy, which are at different study phases, in the treatment of recessive dystrophic epidermolysis bullosa (RDEB) is provided. The most promising in cellular RDEB therapy is application of allogenic mesenchymal stromal/stem cells that can be injected intradermally and intravenously. Genetically modified autologous dermal fibroblasts, which are injected intradermally along the wound edges also should be noted among the injection methods. Epidermal transplants, based on patient’s autologous keratinocytes, have been developed ex vivo on the basis of gene therapy methods. Products based on double-layer transplants, including both types of skin cells producing C7, have been developed as well. These are the most advanced technologies in pre-clinical and clinical studies, and the gene product in vivo, namely a local gene therapy on the basis of herpes simplex virus type 1 aimed at C7 protein restoration by delivering COL7A1, is the first method of gene therapy, that can already be used in a clinical setting for RDEB treatment. Products based on gene editing using nucleases are also being developed. The review discusses in detail the results of pre-clinical and clinical studies of above mentioned products.