This technology includes the generation and use of human induced pluripotent stem cell (iPSC) lines that can be used to study and screen potential therapeutics for lysosomal storage diseases (LSDs). LSDs are a group of 50 genetic disorders caused by mutations in the genes encoding lysosomal enzymes and proteins. Although various therapeutic approaches exist, most cases of LSDs are not effectively treated due to a lack of therapeutics (including stem cells and recombinant proteins). The iPSC lines in this technology were generated from patient fibroblasts that were differentiated into neural stem cells and neurons appropriate for disease modeling and evaluation of drug efficacy.
The human-derived induced pluripotent stem cell (iPSC) lines enable a much more direct method for modeling lysosomal storage disease (LSD) and evaluating compound efficacy. Previous work with fibroblast cell lines revealed that drug potency and efficacy were significantly different from human responses. The use of iPSC technology is expected to lead to more relevant potency and efficacy measures.