Bardet-Biedl syndrome 1 (BBS1) mutation affecting multiple organs, including the eyes and vision research hub

Gene therapy study to assess the safety, tolerability and effectiveness of AXV-101 when injected into the eye in patients with a mutated BBS1 gene to prevent sight loss

This study looks at a new gene therapy called AXV-101 for children and young people aged 4-17 with Bardet-Biedl syndrome 1 (BBS1) to try and prevent sight loss. It's a first step to see if the treatment is safe and how well it works.