Hemophilia B

Pseudoexon inclusion induced by three deep intronic variants in hemophilia B and correction achieved through an antisense oligonucleotide-based strategy.

Although studies have identified deep intronic variants associated with hemophilia B in patients undiagnosed by conventional genetic testing, knowledge in this field remains limited. Long range-PCR of...

Safety, efficacy and patient-reported outcomes 6 years after fidanacogene elaparvovec in adults with hemophilia B.

Fidanacogene elaparvovec is a single-dose gene therapy designed to express the high-activity factor IX (FIX) variant FIX-R338L. Participants (N=15) with FIX activity ≤2% were dosed with 5×...

Diagnosis and management of hemophilia A and B.

Hemophilia A and hemophilia B are inherited bleeding disorders caused by a deficiency or absence of coagulation factor VIII (FVIII) and factor IX (FIX), respectively. The severity of bleeding manifest...

Optimized AAVrh10 and Factor 9 vectors demonstrate improved phenotypic rescue in hemophilia B mice.

Hemophilia B is an X-linked bleeding disorder caused by a functional deficiency of coagulation factor IX (FIX). Adeno-associated virus (AAV) mediated gene therapy based on vector serotypes 5 and 8, ha...

Is marstacimab the next step in personalized and effective haemophilia management?

Is marstacimab the next step in personalized and effective haemophilia management?

Comparative evaluation of liver-directed knockin strategies with viral and nonviral vectors in mouse inherited disease models.

CRISPR-Cas9-mediated gene knockin has emerged as a promising strategy for early-onset genetic disease intervention. However, the therapeutic efficacy and editing outcomes of different knockin strategi...