Aug 12, 2020 | David Hutton
The FDA this week granted the fourth Orphan Drug Designation (ODD) for a novel gene therapy product candidate (OCU400, Ocugen Inc.) in the treatment of PDE6B gene mutation-associated retinal diseases.
This designation targets retinitis pigmentosa (RP) caused by PDE6B mutations. RP that is a result of this mutation leads to blindness by midlife, and is characterized by the progressive loss of photoreceptors — with or without the loss of retinal pigment epithelium cells.
At least one mutation in the PDE6B gene has been found to cause autosomal dominant congenital stationary night blindness, which is characterized by the inability to see in low light.
According to a press release, Ocugen’s modifier gene therapy platform allows ophthalmologists to address multiple diseases with a single product.
The novel gene therapy product candidate has the potential to be broadly effective in restoring retinal integrity and function across a range of genetically diverse inherited retinal diseases.
It consists of a functional copy of a nuclear hormone receptor (NHR) gene, NR2E3, delivered to target cells in the retina using an adeno-associated viral vector.
As a potent modifier gene, expression of NR2E3 within the retina may help reset retinal homeostasis and potentially offer longer benefit, stabilizing cells and rescuing photoreceptor degeneration and vision loss.