We are a clinical stage company, developing a compelling portfolio of innovative gene therapy products for people with serious, life-threatening rare diseases.
The goal of gene therapy for XLMTM is long-term expression of myotubularin in muscle cells after administration of a vector carrying the MTM1 gene. Increased levels of myotubularin are expected to produce improvement in the profound muscle weakness and respiratory impairment in XLMTM.
The goal of gene therapy for Crigler-Najjar Syndrome is the long-term expression of the UGT1A1 enzyme in the liver after administration of a vector carrying the UGT1A1 gene. Increased levels of UGT1A1 are expected to lower serum bilirubin levels and reduce the risk of irreversible neurological damage and death.
The goal of gene therapy for Pompe disease is long-term expression of acid alpha-glucosidase (GAA) in muscle and nerve tissue after administration of a vector carrying the GAA gene. Increased levels of GAA are expected to produce improvement in the muscular weakness and respiratory impairment evident in Pompe Disease.
The goal of gene therapy for CASQ2-CPVT is long-term expression of calsequestrin 2 in cardiac muscle cells. Increased levels of calsequestrin 2 are expected to enable the heart to maintain a normal rhythm and reduce the risk of life threatening arrythmias.