Leber Congenital Amaurosis (LCA)

LCA is a rare inherited form of blindness, causing visual dysfunction and blindness in childhood, often from birth. Several different gene mutations can cause LCA; one of the genes involved is RPE65, a protein expressed in the retinal pigment epithelium (RPE). The RPE, which is the outermost layer of the retina, supports photoreceptor function and participates in the visual cycle with photoreceptor cells. Mutations in RPE65 interrupt the visual cycle; however, in animal models of RPE65 deficiency, gene replacement has been shown to be effective in reversing vision loss.

Status

Recent clinical trials using AAV serotypes encoding RPE65 have been successful in restoring some useful vision in LCA patients. The proposed therapeutic is a one-time injection of ReGenX’s AAV Vector Technology encoding RPE65 in the subretinal space. AAV7 has been shown to be more efficient than the previously studied AAV serotypes in delivering genes to the target cell type (the RPE). Given the limited volumes that can be injected in the subretinal space, a more efficient vector is expected to deliver higher efficacy at a given dose, and be able to restore more vision to LCA patients. The proposed therapeutic is in the preclinical stage of development.

Market

LCA is a rare disease, with an estimated 2,000 patients in the U.S. that carry the RPE65 mutation.