Targeted Enzyme Replacement Therapy for Rare Forms of Osteogenesis Imperfecta

DESCRIPTION (provided by applicant): The long-term goal of this project is to develop an effective protein replacement therapeutic (PRT) for patients affected with rare forms of Osteogenesis imperfecta, OI-VIII (deficiency in prolyl 3-hydroxylase 1; P3H1)and OI-VII (deficiency in cartilage associated protein CRTAP). These PRTs will integrate the safety and cost advantages of plant-based bioproduction with innovations that enhance delivery and disease correction. OI is a group of genetic connective tissue disorders characterized by low bone mass and increased bone fragility. Current treatment options for OI are limited to bisphosphonates treatments, which inhibit bone resorption but are controversial due to the likelihood of deleterious effects in young patients as well as adults. Developing effective PRTs for these patients is challenging since classic enzyme replacement therapies (ERTs) have been relatively ineffective in correcting bone-related pathologies. PRTs for these rare OI diseases will require eff