AAV-PPP2R5D

AAV-PPP2R5D is an adeno-associated virus (AAV) vector-based gene therapy designed to treat Jordan's Syndrome (JS), a rare neurodevelopmental disorder. JS is caused by de novo missense mutations in the PPP2R5D gene, which encodes the B56δ regulatory subunit of protein phosphatase 2A (PP2A). These mutations lead to PP2A dysfunction, affecting neuronal development and signaling. AAV-PPP2R5D aims to deliver a functional copy of the PPP2R5D gene to restore PP2A activity and rescue the neurological phenotypes associated with the disorder. Research conducted at the University of California, Davis, has demonstrated that overexpression of PPP2R5D via AAV can rescue electrophysiological and transcriptomic phenotypes in human 3D neuronal organoid models of JS.