Clinical Trial: Molecular and Clinical Profile of Von Willebrand Disease in Spain

Study Status: Not yet recruiting
Recruit Status: Not yet recruiting
Study Type: Observational [Patient Registry]

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, Diagn

Brief Summary: 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.

Detailed Summary:

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 internationa
Sponsor: Spanish Society of Thrombosis and Haemostasis

Current Primary Outcome: Central diagnosis of 400 new VWD Spanish patients [ Time Frame: January 2019 ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

• PCM-EVW-ES project algorithm validation/confirmation [ Time Frame: January 2019 ]
  Evaluation of the algorithm with data from the Spanish Registry patients. Mutation results will be used in the first line of VWD diagnosis Correlation between mutations and phenotype
• Potential collaboration with the International Society on Thrombosis and Haemostasis [ Time Frame: January 2019 ]
  Proposal for evaluation of the PCM-EVW-ES algorithm with data from other international VWD patients cohorts

Original Secondary Outcome: Same as current

Information By: Spanish Society of Thrombosis and Haemostasis

Dates:
Date Received: July 29, 2016
Date Started: January 2017
Date Completion: August 2019
Last Updated: August 11, 2016
Last Verified: August 2016