AAV9-hSTXBP1 long isoform

AAV9-hSTXBP1 long isoform is an adeno-associated virus (AAV) serotype 9-based gene therapy developed by UCB for the treatment of STXBP1-related disorders, such as STXBP1 encephalopathy. The therapy utilizes an AAV9 vector to deliver the long splice variant (isoform) of the human syntaxin-binding protein 1 (STXBP1) gene under the control of a neuronal promoter. STXBP1 is critical for neurotransmitter release, and haploinsufficiency leads to severe neurodevelopmental delays and epilepsy. Preclinical studies indicate that the long isoform specifically rescues a broader range of phenotypic deficits, including cognitive and motor functions, compared to the short isoform.

Other names

AAV9-hSTXBP1-HAAAV-9-hSTXBP1-HAAAV 9-hSTXBP1-HAAAV9-STXBP1 long isoform gene therapyAAV-9-STXBP1 long isoform gene therapyAAV 9-STXBP1 long isoform gene therapy