Identification Of a Therapeutic Threshold For AAV-STXBP1 Gene Therapy in a Rodent Model of STXBP1 Developmental & Epileptic Encephalopathy - PubMed
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- #STXBP1
- #gene therapy
- #therapeutic threshold
- AAV-STXBP1 gene therapy was tested in a rodent model of STXBP1-related developmental and epileptic encephalopathy (STXBP1-DEE).
- A therapeutic threshold of ≥44% cortical neuronal transduction was identified as necessary for phenotypic improvement in Stxbp1+/- mice.
- Long-term analysis showed durable STXBP1 transgene expression in the brain for up to one year.
- A mass spectrometry assay was developed to detect STXBP1 and syntaxin-1 (STX1) in human cerebrospinal fluid (CSF), potentially serving as a clinical biomarker.
- The findings support further development of AAV-based gene supplementation strategies for STXBP1-DEE.