antisense oligonucleotides targeting STXBP1

Antisense oligonucleotides (ASOs) targeting STXBP1 are a class of investigational RNA-targeted therapeutics designed to treat developmental and epileptic encephalopathy 4 (DEE4), also known as STXBP1-related disorder (STXBP1-RD). STXBP1-RD is a rare, severe neurodevelopmental condition caused by heterozygous loss-of-function mutations in the STXBP1 gene, leading to haploinsufficiency of the syntaxin-binding protein 1 (STXBP1/Munc18-1), which is essential for synaptic vesicle docking and neurotransmitter release. These ASOs are designed to bind to regulatory sites or target potential poison exons in the STXBP1 pre-mRNA or mRNA transcripts, thereby correcting splicing errors, preventing microRNA-mediated downregulation, or boosting translation from the functional allele to restore healthy STXBP1 protein levels in the central nervous system. Several biopharmaceutical companies and academic institutions are developing STXBP1-targeted ASOs, including Quiver Bioscience (formerly Q-State Biosciences), Ionis Pharmaceuticals (in collaboration with the Prosser Lab), Stoke Therapeutics, and Panorama Medicine (developing Pano-777).

Other names

STXBP1 ASOSTXBP-1 ASOSTXBP 1 ASOSTXBP1 antisense oligonucleotidesSTXBP-1 antisense oligonucleotidesSTXBP 1 antisense oligonucleotidesSTXBP1-targeted antisense oligonucleotidesSTXBP-1-targeted antisense oligonucleotidesSTXBP 1-targeted antisense oligonucleotides