Preclinical gene therapy shows FMRP restoration and symptom recovery in fragile X mouse model

A gene therapy restoring human FMRP via an AAV vector reversed multiple fragile X syndrome deficits in an FXS mouse model, researchers reported in Gene Therapy. Investigators at Cincinnati Children’s Hospital Medical Center delivered an AAV9 vector expressing the FMR1 gene either intracerebroventricularly or intravenously, achieving broad brain expression and improvements tied to clinically relevant phenotypes including sensory hyperexcitability and altered brain activity.