TCIRG1 lentiviral vector-transduced autologous CD34+ cells

TCIRG1 lentiviral vector-transduced autologous CD34+ cells is an ex vivo gene therapy developed by Fondazione Telethon and San Raffaele Hospital (SR-Tiget) for the treatment of autosomal recessive osteopetrosis (ARO), specifically the form caused by mutations in the TCIRG1 gene. The therapy involves the collection of a patient's own CD34+ hematopoietic stem and progenitor cells, which are then transduced with a lentiviral vector carrying a functional human TCIRG1 cDNA. TCIRG1 encodes the a3 subunit of the vacuolar H+-ATPase (V-ATPase) proton pump, which is critical for the acidification of the resorption lacuna by osteoclasts. By restoring TCIRG1 expression, the therapy enables the development of functional osteoclasts capable of bone resorption, thereby addressing the underlying cause of the disease and preventing the severe skeletal and neurological complications associated with ARO.

Other names

TCIRG1 gene therapyTCIRG-1 gene therapyTCIRG 1 gene therapyAutologous CD34+ cells transduced with lentiviral vector encoding TCIRG1TIGET-ARO