A MODEL OF CONGENITAL ERYTHROPOIETIC PORP HYRIA FOR GENE-TRANSFER IN HEMATOPOIETIC-CELLS

CEP is a rare disease inherited as an autosomal recessive trait and ch aracterized by an overproduction and accumulation of porphyrins in the bone-marrow. Because the predominant site of metabolic expression of the disease is the erythropoietic system, bone marrow transplantation represents a curative treatment for patients with severe phenotypes. T his treatment can be considered in severe cases when the disease appea rs in the first few years of life. When bone marrow transplantation is not possible, gene therapy by transplantation of genetically modified hematopoietic cells is an attractive alternative for the future. in t his report, we present the restoration of enzymatic activity and the m etabolic correction of deficient tells In vitro after transduction wit h retroviral vectors. The future availability of a mouse model of the disease will permit ex vivo gene therapy experiments on the entire ani mal.