AAV-CHD3-R1025W base editor

AAV-CHD3-R1025W base editor is an experimental gene therapy designed for the treatment of Snijders Blok-Campeau syndrome (SBCS), a rare neurodevelopmental disorder caused by mutations in the *CHD3* gene. The therapy utilizes a dual-adeno-associated virus (AAV) vector system to deliver CRISPR-based base editing machinery specifically engineered to correct the R1025W (c.3073C>T) missense mutation. Unlike traditional CRISPR-Cas9 systems that create double-strand breaks, base editors allow for the precise conversion of a single nucleotide pair back to the wild-type sequence, potentially restoring the function of the chromodomain-helicase-DNA-binding protein 3. Due to the large size of the base editor components, a dual-vector approach is employed where the machinery is split and reconstituted within the target cells. The treatment is administered via a single intrathecal injection to facilitate delivery to the central nervous system.

Other names

Dual vector AAV-CHD3-R1025W base editorCHD3-R1025W base editorCHD-3-R1025W base editorCHD 3-R1025W base editor