rAAV.hPDE6A

rAAV.hPDE6A is a gene therapy vector designed to treat retinitis pigmentosa caused by mutations in the PDE6A gene. It uses an adeno-associated viral (AAV) vector to deliver a functional copy of the human PDE6A gene to photoreceptor cells in the retina through subretinal injection. The PDE6A gene encodes a subunit of the rod phosphodiesterase enzyme, which is essential for normal visual function. In patients with PDE6A mutations, loss of this enzyme function leads to chronically elevated cGMP levels, causing increased calcium inflow into photoreceptor cells and hyperactivation of cell death pathways, ultimately resulting in photoreceptor degeneration and vision loss.

Other names

PDE6A gene therapyPDE-6A gene therapyPDE 6A gene therapyAAV8-PDE6AAAV-8-PDE6AAAV 8-PDE6A