Hemophilia B Gene Therapy with a High-Specific-Activity Factor IX Variant.

ABSTRACT:

Background

The prevention of bleeding with adequately sustained levels of clotting factor, after a single therapeutic intervention and without the need for further medical intervention, represents an important goal in the treatment of hemophilia.

Methods

We infused a single-stranded adeno-associated viral (AAV) vector consisting of a bioengineered capsid, liver-specific promoter and factor IX Padua (factor IX-R338L) transgene at a dose of 5×10¹¹ vector genomes per kilogram of body weight in 10 men with hemophilia B who had factor IX coagulant activity of 2% or less of the normal value. Laboratory values, bleeding frequency, and consumption of factor IX concentrate were prospectively evaluated after vector infusion and were compared with baseline values.

Results

SUBMITTER: George LA 

PROVIDER: S-EPMC6029626 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature