ArticleMolecular therapy : the journal of the American Society of Gene Therapy2025
Neuron-targeted gene therapy rescues multiple phenotypes of STXBP1-related disorders in mice and is well tolerated in nonhuman primates.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Neuron-specific WWOX gene therapy produces dose-dependent, durable rescue in a model of WWOX-related epileptic encephalopathy.Molecular therapy. Advances · 2026Article
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- In vivo Proximity & Spatial Proteomics with CRISPR Screening Identify STXBP1 as a Protective Modifier of α-synuclein Toxicity in Dopamine Neurons.bioRxiv : the preprint server for biology · 2026Article
- Recent advances in epigenetic therapeutics for Rett syndrome: from mechanisms to clinical trials.Frontiers in behavioral neuroscience · 2026Review
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Authors and funding
33 authors.
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Abstract
De novo heterozygous variants in the neuronal STXBP1 gene cause severe, early-onset developmental and epileptic encephalopathy. Adeno-associated virus (AAV)-based gene replacement therapy offers the potential for a one-time, disease-modifying approach for STXBP1-related disorders. However, off-target overexpression in the liver and in the dorsal root ganglion (DRG) are known potential toxicities of AAV vectors. In addition, while loss of STXBP1 in GABAergic interneurons contributes to disease pathogenesis, typical gene therapy promoters do not express well in these cell populations. We engineered novel promoter cassettes to drive potent, selective STXBP1 expression across both excitatory and inhibitory neurons, and a 3' UTR regulatory element to detarget expression in DRG. Bilateral intracerebroventricular (ICV) injection of these promoter candidates achieved robust neuronal expression of STXBP1 and rescued key behavioral phenotypes in Stxbp1
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