scAAV8.hFIXa.R338L

scAAV8.hFIXa.R338L is an experimental gene therapy candidate designed for the treatment of Hemophilia B. It utilizes a self-complementary adeno-associated virus serotype 8 (scAAV8) vector to deliver a codon-optimized transgene encoding the activated form of human Factor IX (FIXa) carrying the hyper-functional Padua mutation (R338L). Unlike traditional FIX gene therapies that deliver the zymogen (FIX), this approach enables the direct expression of the activated enzyme (FIXa), which is the final functional effector in the coagulation cascade. By bypassing the activation step and utilizing the high-activity Padua variant, the therapy aims to achieve robust hemostatic correction at significantly lower vector doses—approximately 1,000-fold lower than zymogen-based approaches—potentially reducing liver toxicity and manufacturing costs. The construct features a furin cleavage motif to ensure proper processing of the light and heavy chains of FIXa within the liver.

Other names

AAV8-hFIXa-PaduaAAV-8-hFIXa-PaduaAAV 8-hFIXa-PaduascAAV8-hFIXa-PaduascAAV-8-hFIXa-PaduascAAV 8-hFIXa-Padua