The Low Von Willebrand factor Ireland Cohort (LoVIC) study.

Von Willebrand factor (VWF) is a large plasma protein that plays an essential role in normal blood coagulation. Inherited VWF deficiency is responsible for the commonest inherited bleeding disorder (von Willebrand disease or VWD) that affects up to 1% of the general population. Although substantial progress has been achieved in understanding VWF biology in recent years, the mechanisms that are responsible for causing VWD remain poorly understood. This is particularly true for patients with mild to moderate reductions in blood VWF levels. Interestingly in these individuals, mutations of the VWF gene do not appear to be responsible for the disease. Instead, other as yet unknown genes are responsible for modulating the reduction in blood VWF levels. The fact that the biological basis responsible for causing Low VWF levels is not understood, poses significant clinical challenges with respect to diagnosis and management of these patients.
To address these questions, we propose to establish the Low VWF study and a new international research network. This study will include all Irish patients with Low VWF levels who will be followed up in a longitudinal manner. The study design will enable us to investigate the relationship between Low VWF levels and bleeding symptoms in these patients. In addition, we will determine whether the reduced levels of VWF are due to a reduction in VWF production, or reduced survival of VWF in the circulation. Cumulatively the findings from this study will be of direct relevance in terms of managing this cohort of individuals. In addition, because VWD is so common in the general population, our results will also have significant public health implications.

Award Date

19 June 2014

Award Value

€328,970

Principal Investigator

Professor James O'Donnell

Host Institution

Trinity College Dublin

Scheme

Health Research Awards