Timrepigene emparvovec for choroideremia

Timrepigene emparvovec is in clinical development for the treatment of choroideremia. Choroideremia is a rare inherited eye disorder that causes progressive loss of sight, eventually leading to complete blindness. Choroideremia is caused by certain genetic mutations that prevent the eye from producing an important protein, REP-1. Without this protein, cells in the light-sensitive part of the eye (the retina) and the surrounding network of blood vessels (the choroid) begin to die. The disease largely affects males while females can be carriers with less severe symptoms. Currently, there are no treatments for choroideremia.
Timrepigene emparvovec is a gene therapy that, when injected into the eye, allows cells to produce the missing REP-1 protein. With REP-1 present, the early stages of cell death can be slowed down or reversed, preventing the progressive loss of vision seen in choroideremia. If licenced, Timrepigene emparvovec will offer a gene therapy option for patients with choroideremia who currently have no effective treatments available.