ABSTRACT
This chapter examines our first successful clinical trials of gene therapy for this group of diseases. It has been the case that skin, being such an accessible organ, has led the way in gene therapy research, and much of what we have learned from cutaneous gene therapy for epidermolysis bullosa (EB) provides valuable information to help guide future gene therapy for other diseases affecting less accessible extracutaneous tissues. Ex vivo gene therapy begins with harvesting of skin biopsies, which are transported to a manufacturing facility, where gene transfer and expansion of corrected cells takes place. Recent gene therapy studies of non-lethal junctional EB patients have shown promising results. Based on recent genomic modeling studies, recessive dystrophic epidermolysis bullosa has an estimated incidence of 95 per million live births, and it is estimated to affect nearly 4,000 patients in the United States.
