Overview
- The study targets multisystemic smooth muscle dysfunction syndrome, a rare childhood disorder most often caused by a single ACTA2 variant linked to stroke and aortic dissection.
- Researchers engineered a bespoke Cas9-based base editor to correct the mutation while minimizing unwanted nearby DNA edits seen with conventional editors.
- A vascular-targeting viral vector delivered the editor to smooth muscle lining blood vessels, described by the team as the first CRISPR approach focused on the vasculature.
- In engineered mouse models, a single dose prolonged survival by a factor of four and improved brain and aortic disease as well as exercise intolerance.
- The program remains preclinical, with FDA engagement, progress toward an IND filing, and rare-disease designations secured, and no human trials initiated.