FVIII-QQ

FVIII-QQ is an engineered, enhanced-function variant of coagulation Factor VIII (FVIII), specifically incorporating two amino acid substitutions (R336Q and R562Q) designed to improve the efficacy and durability of gene therapy for hemophilia A. Hemophilia A is a congenital bleeding disorder caused by deficiency or dysfunction of FVIII, a critical cofactor in the blood coagulation cascade that amplifies factor IX catalytic activity to promote clot formation. Traditional gene therapies for hemophilia A have been limited by declining or insufficient long-term expression of FVIII. Preclinical studies in mice demonstrate that the FVIII-QQ transgene achieves more durable and effective hemostasis without increasing thrombotic risk or provoking significant immune responses compared to wild-type FVIII constructs. The development aims to address key limitations in current adeno-associated virus (AAV)-mediated gene therapies for hemophilia A[3][4].

Other names

enhanced function factor VIII variantR336Q/R562Q-FVIII