CE17 - Recherche translationnelle en santé

Biological signature of bleeding burden in von Willebrand disease: towards new targets for diagnosis and treatment – TWIST

Submission summary

Von Willebrand disease (VWD) is an inherited rare bleeding disorder resulting from quantitative or qualitative deficiencies in von Willebrand factor (VWF), a plasma glycoprotein, crucial to platelet thrombus formation. The current VWD classification, although crucial to understand the pathophysiology of the VWF alteration, is not always a good proxy for evaluation of clinical severity and management. Despite existing treatment options, VWD management leaves room for improvement and identification of new targets for diagnosis and personalized treatment, based on the burden and severity of the disease. The TWIST project proposes to build on the two existing French databases related to VWD, the database from the French reference center for von Willebrand disease (and the FranceCoag registry and to match these data to the exhaustive information of the national health insurance data system. This will allow to determine the incidence of bleeding and the burden of VWD in terms of public health from an exhaustive follow-up over a long period of 14 years. TWIST objective is to explain care pathways and severity using an unprecedented unbiased approach including typing subtyping of VWD, sequencing of VWF, Genome Wide genetic data, VWF sequencing and in-depth protein characterization with new tools. This unprecedented unbiased approach to explain the burden and severity of VWD including the use genomic data and systematic characterization of VWF with new tools are highly innovative. We will particularly focus on women who are the most affected population. This combination of clinical and translational research will shed light on an often-neglected bleeding disorder which, while not deadly anymore in our modern times, still impacts significantly the lives of patients.

Project coordinator

Madame Sophie Susen (Récepteurs Nucléaires, Maladies Métaboliques et Cardiovasculaires)

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.

Partner

BPH Bordeaux Population Health Research Center
RNMCD Récepteurs Nucléaires, Maladies Métaboliques et Cardiovasculaires
HITh Hémostase, Inflammation, Thrombose

Help of the ANR 514,320 euros
Beginning and duration of the scientific project: March 2023 - 48 Months

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