After preclinical testing, a phase 1 trial involving three individuals with familial hypercholesterolemia demonstrated preliminary evidence for the safety and efficacy of AAV8-mediated LDL receptor gene therapy.

After preclinical testing, a phase 1 trial involving three individuals with familial hypercholesterolemia demonstrated preliminary evidence for the safety and efficacy of AAV8-mediated LDL receptor gene therapy.

AAV8-mediated gene therapy targeting the liver effectively normalized peripheral oxysterol levels in a mouse model of hereditary spastic paraplegia type 5 (SPG5). However, brain oxysterol levels remained partially corrected, indicating that successful SPG5 treatment requires a gene therapy approach that also targets the central nervous system.

This study evaluates preclinical efficacy of RGX-202, an AAV8-microdystrphin with extended CT-domain undergoing clinical investigations for Duchenne Muscular Dystrophy (NCT05693142), in mdx mice. Histologic, MRI and functional assessments including gait significantly improved following robust muscle microdystrophin expression and DAPC recruitment at the minimum effective dose justified from three separate studies.

D’Amico and colleagues showed that intravenous injection of AAV8 vector carrying an optimized human FVII transgene results in sustained supra-physiological plasma levels of human FVII in wild type mice with no adverse events detected after 48 weeks. This result justifies further preclinical study for gene therapy for FVII deficiency.

A liver-targeted AAV8-mediated ATP7B (AAV8-ΔC4ATP7B) gene therapy rescued impaired Cu metabolism and reversed liver histopathology without adverse effects in Atp7b R780L knock-in (KI) mouse model, supporting the potential of AAV8-ΔC4ATP7B as a safe and…

BACKGROUND: Mutations in antithrombin (SERPINC1) lead to the hereditary antithrombin deficiency. Conventional therapies for hereditary antithrombin deficiency are prophylactic or on-demand oral anticoagulants, which have poor compliance and side effects. This study explored the therapeutic efficacy...

BACKGROUND: Mutations in antithrombin (SERPINC1) lead to the hereditary antithrombin deficiency. Conventional therapies for hereditary antithrombin deficiency are prophylactic or on-demand oral anticoagulants, which have poor compliance and side effects. This study explored the therapeutic efficacy...

This study evaluates preclinical efficacy of RGX-202, an AAV8-microdystrphin with extended CT-domain undergoing clinical investigations for Duchenne Muscular Dystrophy (NCT05693142), in mdx mice. Hist...