lentiviral vector encoding human G6PC

LV.G6PC (lentiviral vector encoding human G6PC) is an experimental liver-directed gene therapy being developed by the San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) for the treatment of Glycogen Storage Disease Type Ia (GSDIa). GSDIa is a rare metabolic disorder caused by a deficiency in the enzyme glucose-6-phosphatase (G6PC), which is critical for maintaining blood glucose homeostasis. The therapy utilizes an integrative lentiviral vector to deliver a functional human *G6PC* transgene to hepatocytes. Expression is controlled by either a constitutive hepatocyte-specific enhanced transthyretin (ET) promoter or variants of the proximal human G6PC promoter designed to respond to metabolic cues. Preclinical studies in mouse models have demonstrated that LV.G6PC can normalize blood glucose and triglyceride levels, prevent hepatomegaly, and restore enzymatic activity, potentially offering a long-term solution for preventing metabolic dysregulation and hepatic pathology in GSDIa patients.