Advances in Gene/Cell Therapy in Epidermolysis Bullosa

• Published in: Keio journal of medicine Vol. 64; no. 2; pp. 21 - 25
• Main Authors: Koller, Ulrich, luca, Michele De, Pellegrini, Graziella, Bauer, Johann W., Murauer, Eva M.
• Format: Journal Article
• Language: English
• Published: Japan The Keio Journal of Medicine 2015
• Subjects: Animals; epidermolysis bullosa; Epidermolysis Bullosa - therapy; gene/cell therapy; Genetic Therapy; Humans; Keratinocytes - transplantation; Stem Cell Transplantation
• ISSN: 0022-9717; 1880-1293; 1880-1293
• DOI: 10.2302/kjm.2014-0013-RE

In the past few years, substantial preclinical and experimental advances have been made in the treatment of the severe monogenic skin blistering disease epidermolysis bullosa (EB). Promising approaches have been developed in the fields of protein and cell therapies, including allogeneic stem cell transplantation; in addition, the application of gene therapy approaches has become reality. The first ex vivo gene therapy for a junctional EB (JEB) patient was performed in Italy more than 8 years ago and was shown to be effective. We have now continued this approach for an Austrian JEB patient. Further, clinical trials for a gene therapy treatment of recessive dystrophic EB are currently under way in the United States and in Europe. In this review, we aim to point out that sustainable correction of autologous keratinocytes by stable genomic integration of a therapeutic gene represents a realistic option for patients with EB.