scAAV2-P1ND4v2

scAAV2-P1ND4v2 is a gene therapy product designed for the treatment of Leber's Hereditary Optic Neuropathy (LHON) caused by the G11778A mutation in mitochondrial DNA. It utilizes a self-complementary adeno-associated virus serotype 2 (scAAV2) vector to deliver the human wild-type ND4 subunit gene of mitochondrial complex I into retinal ganglion cells. The delivered ND4 gene is expressed allotopically, meaning it is transcribed in the nucleus and translated on ribosomes associated with the external mitochondrial membrane before being imported into mitochondria, where it can restore complex I function and prevent or reverse visual loss due to LHON. Preclinical studies have shown that scAAV2-P1ND4v2 prevents visual loss and optic neuropathy induced by mutant G11778A DNA in animal models, with minimal vector spread outside the injected eye and no significant toxicity observed. The therapy is currently being evaluated in phase 1 clinical trials for safety and tolerability following intravitreal injection[1][3][5][8].