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Preclinical pharmacology and toxicology study of an AAV8-tATP7B vector for Wilson's disease - PubMed

3 days ago
  • #Gene Therapy
  • #AAV8 Vector
  • #Wilson's Disease
  • Study focuses on developing a novel gene therapy for Wilson's disease (WD) using an AAV8-tATP7B vector.
  • Codon-optimized full-length or truncated ATP7B (tATP7B) genes were used with liver-specific mini promoters in the AAV8 vector.
  • Truncated ATP7B showed comparable copper export ability but higher expression efficiency than full-length ATP7B in HepG2 cells.
  • AAV8-tATP7B restored copper homeostasis and liver function in Atp7b-/- mice in a dose-dependent manner over 24 weeks.
  • Toxicity studies in rats and monkeys showed no systemic toxicity, with reversible liver changes in monkeys at high doses.
  • 6×10¹³ vg/kg was established as the maximum tolerated dose based on the toxicity studies.
  • The study concludes that AAV8-tATP7B is effective and safe, supporting its clinical translation for WD patients.