Autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene research hub

A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.

This study is for children with a rare bone disease called osteopetrosis caused by a specific gene fault. It tests a new genetic cell therapy to see if it's safe, works, and improves their health by correcting the faulty gene in their own cells.