AAV9-EIF2B5 gene therapy

AAV9-EIF2B5 gene therapy is an experimental adeno-associated virus (AAV) serotype 9-based gene replacement therapy designed to treat Vanishing White Matter Disease (VWM), a fatal pediatric leukodystrophy. VWM is primarily caused by autosomal recessive mutations in the EIF2B5 gene, which encodes a subunit of the eukaryotic initiation factor 2B (eIF2B) complex essential for protein translation and the regulation of the integrated stress response (ISR). The therapy delivers a functional copy of the human EIF2B5 gene to the central nervous system, often utilizing astrocyte-specific promoters such as gfaABC(1)D or gfa1405 to target astrocytic dysfunction, which is central to the disease's pathology. Preclinical studies in mouse models have demonstrated that intracerebroventricular delivery can improve motor function, extend survival, and partially normalize dysregulated gene expression profiles in astrocytes and other glial cells.

Other names

AAV9-EIF2B5AAV-9-EIF2B5AAV 9-EIF2B5EIF2B5 gene therapyEIF-2B5 gene therapyEIF 2B5 gene therapy