AAV9-miniNF1

AAV9-miniNF1 is an adeno-associated virus serotype 9 (AAV9) mediated gene therapy designed for the treatment of Neurofibromatosis Type 1 (NF1). NF1 is a genetic disorder caused by mutations in the NF1 gene, which encodes neurofibromin, a critical negative regulator of RAS signaling. Loss of neurofibromin leads to RAS hyperactivation, driving the development of plexiform neurofibromas, primarily through the Schwann cell lineage. Because the full-length NF1 cDNA (8.5 kb) exceeds the standard AAV packaging capacity (approximately 4.8 kb), this therapy utilizes a functional NF1 minigene (miniNF1). The construct has been evaluated using different promoters, including the ubiquitous chicken beta actin (CAG) promoter and the Schwann cell-targeting myelin protein zero (P0) promoter, to optimize delivery to the peripheral nervous system and modulate RAS signaling in tumor environments.

Other names

AAV9-CAG-miniNF1AAV-9-CAG-miniNF1AAV 9-CAG-miniNF1AAV9-P0-miniNF1AAV-9-P0-miniNF1AAV 9-P0-miniNF1