University of Edinburgh Gene Therapy Research Grant

Award: $180,000 grant to University of Edinburgh Medical School's Patrick Wild Centre & Centre for Discovery Brain Sciences

Funder: SynGAP Research Fund (US) and SynGAP Research Fund UK (joint award)

Project Details

Principal Investigators:

• Stuart Cobb (Simons Fellow and Professor in Translational Neuroscience)
• Peter Kind (Director of the Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disability; Professor of Developmental Neuroscience)

Research Focus: AAV-based gene therapy for SYNGAP1 haploinsufficiency

Project Description

The two-phase project aims to assess the effectiveness of SYNGAP1 vector in rat models of the disorder using intracerebroventricular (ICV) injection of AAV9/hSYNGAP1 vector.

Phase I: Establish transduction efficiency and tissue bio-distribution of AAV9/SYNGAP1 in brain regions after ICV injection in wild type rats

Phase II: Test therapeutic benefit of ICV delivery of AAV9/hSYNGAP1 in male SYNGAP1 +/- male rats in terms of key neurological and behavioral phenotypes

Goal: Generate proof-of-concept efficacy and non-GLP safety data to support potential future IND submission for SYNGAP1 gene therapy

Background

In pilot studies, the researchers identified an AAV9-packaged construct that demonstrated the ability to target a dominant isoform of SynGAP protein to synaptic compartments at pseudo-physiological levels.