Von Willebrand Disease Clinical Trial
Official title:
Molecular and Clinical Profile of Von Willebrand Disease (VWD) in Spain (PCM-EVW-ES). Recruitment Extension, Further Data Analysis, Improvement of Registry Platform, Diagnosis and Management of VWD Application Development
The present Project is a third phase of the previous PCM-EVW-ES Project (Batlle et al. Thromb & Haemost 2015) with the aim of its extension, further analysis with an innovation development in the field of von Willebrand disease (VWD) based in the newer recently available methodologies. The aim of this project is to help the physician in a more uniform characterization and therapy of VWD in clinical practice, at an international level. A reduction of the expenses in the diagnosis process by using the new methodologies is pursued.
The present Project is a third phase of the previous PCM-EVW-ES Project (Batlle et al. Thromb
& Haemost 2015) with the aim of its extension, further analysis with an innovation
development in the field of von Willebrand disease (VWD) based in the newer recently
available methodologies. The aim of this project is to help the physician in a more uniform
characterization and therapy of VWD in clinical practice, at an international level. A
reduction of the expenses in the diagnosis process by using the new methodologies is pursued.
The specific objectives and corresponding tasks of the present project are as follows:
1. Extension of the central phenotypic and next generation sequencing (NGS) genotypic
characterization of the VWD in Spain, through the prospective recruitment in the Spanish VWD
cohort of approximately 500 new patients with local historical VWD diagnosis (from
approximately 38 centres).
i. Improvement of the registry portal and database. ii. Recruitment criteria, phenotypic and
genetic analysis of new recruited patients. In silico studies of novel von Willebrand factor
gene (VWF) mutations iii. Analysis/investigation of the potential interrelationship between
different clinical, phenotypic and genetic variations of the all recruited patients. iv.
Validation/confirmation of the PCM-EVW-ES of the new initial diagnostic proposed algorithm
including VWF NGS analysis. This project involves leading innovation and translational
research with a direct impact on the quality of clinical care (applicability). To our
knowledge there is no similar project in this field. Potential patents may derive from this
project. It involves also development of e-learning and new information technologies (debates
forum, ads, google search engine). This project may promote international collaboration.
Development of an algorithmic platform that facilitates diagnosis and therapy orientation of
VWD in clinical practice using the selected data from the overwhelming amount of information
that new technologies, such as NGS, are producing.
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