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iPSC for cellular and genetic therapy

endothelial cellFVIII promotergene therapyHemophilia Apluripotent stem cells


The invention consists of a method for reprogramming induced Pluripotent Stem Cells (iPSCs) for cellular and gene therapy of hemophilia A. This method involves the collection of somatic cells from the peripheral blood of healthy donors or hemophilic patients and their reprogramming in iPSCs, to be therefore differentiated into endothelial cells. The latter are transduced with a lentiviral vector containing the expression cassette for FVIII and subsequently transplanted into the liver of disease model mice. The transplanted cells take root and proliferate, inducing the correction of hemophilic phenotype in the long term.

Technical features

Hemophilia A is a genetic disorder caused by mutations in the FVIII gene, that decreases or removes the blood’s coagulation ability with consequences of recurrent bleeding. Nowadays, there is no definitive cure, and affected patients are treated with recombinant FVIII or plasma-derived. In many patients, replacement therapy induces the development of antibodies against FVIII which reduces its effects. The proposed patented method is based on the collection of autologous cells which are reprogrammed into iPSCs, to then be differentiated into endothelial cells. The transduced cells with therapeutic gene express FVIII both at RNA and protein level (about 80%). Following genetic correction, the endothelial cells are transplanted into the liver of diseased mice models, with an improvement in the hemorrhagic phenotype. This method has the advantage of inducing the expression of the therapeutic gene in autologous cells, increasing their effectiveness over time.

Possible Applications

  • Gene cellular therapy for Hemophilia A.


  • Use of autologous cells taken from peripheral blood;
  • Differentiation in endothelial cells that are the main producers of FVIII;
  • Gene correction improves the expression of FVIII;
  • Reduction of the immune response with consequent increase in efficacy.