The Potential of Gene Therapy for Recessive Dystrophic Epidermolysis Bullosa

K.S. Subramaniam; M.N. Antoniou; J.A. McGrath; S.M. Lwin


The British Journal of Dermatology. 2022;186(4):609-619. 

In This Article

What Gene Therapy Approaches Have Been Tested in Recessive Dystrophic Epidermolysis Bullosa?

Gene therapy approaches for RDEB focus on overcoming the consequences of mutations in COL7A1 to ensure viable production of a functional C7 protein. These approaches can be divided into five categories: (i) natural gene therapy (revertant mosaicism); (ii) gene addition or supplementation (ex vivo vs. in vivo delivery); (iii) RNA-based therapies (exon-skipping, siRNA and RNA trans-splicing); (iv) premature termination codon (PTC) readthrough; and (v) genome editing (Table 1). Amongst these, the three gene therapy technologies that have entered clinical trials for RDEB are viral vector-mediated gene addition therapy, exon-skipping strategies and PTC-readthrough drugs (Table 2).