SUMMARY
von Willebrand disease (VWD) is the most common inherited bleeding disorder, caused by mutations in the von Willebrand factor (VWF) gene. These mutations can affect the biosynthesis, secretion, function or clearance of VWF. As a result, quantitative or qualitative abnormalities of VWF lead to the bleeding phenotype found in VWD patients. Current management of VWD aims at correcting the bleeding phenotype via the use of supportive therapy, stimulating the release of endogenous VWF reserves and implementation of replacement strategies. Despite current treatment options, VWD patients experience a substantial negative impact on their overall health-related quality-of-life (HRQoL). Development of long-term approaches to manage VWD would not only avoid the current limitations of short-term therapies but could also significantly ameliorate the HRQoL of VWD patients. Gene therapy for VWD offers the potential of a long-term, if not lifelong, correction of VWF deficiency. During the last two decades, gene therapy for VWD has been studied via different strategies. The aim of this review is to give an overview of the different strategies and improvements that were investigated to develop a gene therapy for VWD.
(BELG J HEMATOL 2023;14(8):326–30)
