AAV9-hSTXBP1 short isoform

AAV9-hSTXBP1 short isoform is an adeno-associated virus serotype 9 (AAV9) gene therapy candidate developed by UCB for the treatment of STXBP1-related disorders, such as STXBP1 encephalopathy. The therapy utilizes an AAV9 vector to deliver a short splice variant of the human syntaxin-binding-protein-1 (hSTXBP1) gene under the control of a neuronal promoter. STXBP1 is critical for neurotransmitter release, and haploinsufficiency leads to severe developmental delays and epilepsy. In preclinical mouse models, while the short isoform increased total STXBP1 protein levels and reduced spike-wave discharges, it demonstrated lower efficacy across disease symptoms compared to the long isoform and was associated with reduced locomotor activity.

Other names

AAV9-hSTXBP1-HA short isoformAAV-9-hSTXBP1-HA short isoformAAV 9-hSTXBP1-HA short isoformshort hSTXBP1 gene therapy