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group 2020 spring

AAV Gene Therapy for RP and LCA due to CRB1 variations

We developed an adeno-associated viral (AAV) gene therapy vector (HORA-001) containing a gene for the treatment of Retinitis Pigmentosa (RP) and Leber congenital amaurosis (LCA) and macular degeneration (MD) due to mutations in the CRB1 gene. Preclinical experiments were successful and we collaborate with HORAMA to enable clinical studies in 2023.

Retinitis Pigmentosa

RP is an inherited disorder that leads to progressive loss of vision initially due to degeneration of rod photoreceptors causing initially night blindness in children. Subsequent degeneration of cone photoreceptors causes loss of visual perception. Mutations in the CRB1 gene occur in 4% of RP cases and there are 73,000 RP patients due to variations in the CRB1 gene.

Leber Congenital Amaurosis

The first symptoms of LCA occur in infants being involuntary movement of the eyes (nystagmus) and increased sensitivity to light (photophobia). Mutations in the CRB1 gene occur in 10% of LCA cases and affect about 7,000 patients.

Retinal Gene Therapy

Retinal gene therapy is the introduction of one or more normal genes into retinal cells (e.g. retinal pigment epithelium, rod and/or cone photoreceptors, Müller glial cells, ganglion cells, bipolar cells, horizontal cells, amacrine cells) in place of missing or corrupted ones in order to correct genetic disorders.