Molecular and Clinical Profile of Von Willebrand Disease in Spain (PCM-EVW-ES)

March 18, 2020 updated by: Francisco Javier Batlle Fonrodona, Spanish Society of Thrombosis and Haemostasis

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.

Study Overview

Status

Unknown

Conditions

Intervention / Treatment

Detailed Description

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.

Study Type

Observational

Enrollment (Anticipated)

400

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • Spain
    • Asturias
      • Oviedo, Asturias, Spain, 33011
        • Recruiting
        • Hospital Universitario Central de Asturias
        • Contact:
          • Inmaculada Soto Ortega, MD
        • Contact:
          • Francisco Javier B Fonrodona
          • Phone Number: 630857525

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years to 80 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Up to 400 new patients (not previously recruited for the Spanish Registry) locally diagnosed of VWD.

Description

Inclusion Criteria: One or more of the following:

  1. VWF ≤ 30 IU/d, in 2 or more occasions.
  2. Presence of multimeric abnormalities.
  3. If isolated FVIII deficiency demonstration of decreased FVIII binding.
  4. Presence of some VWF mutation.
  5. ↑ RIPA at low concentrations of ristocetin.

Exclusion Criteria:

  1. Presence of any data suggesting AVWS.
  2. Absence of a signed patient informed consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
VWD Spanish Cohort

Patients with previously diadnosis of VWD from approximately 38-40 different centers from Spain.

Samples from these patients will be analyzed locally, and also centrally for VWF and VWFgene
Genetic: VWF gene analysis
52 exons adjacent intronic regions and promotor of VWF will be analyzed

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Central diagnosis of 400 new VWD Spanish patients
Time Frame: January 2019

Phenotype and genetic central diagnosis of 400 new VWD Spanish patients. With determinations in samples obtained after patients recruitment, VWF NGS sequencing carried out in all patients, for exons 1 to 52, adjacent intronic regions and aproximately 1300 bp of promotor region.

A pheno-genotype will be made With a final diagnosis assignment Evaluation of pheno/genotype congruence
January 2019

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
January 2019
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
January 2019

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Spanish Society of Thrombosis and Haemostasis

Collaborators

Francisco Vidal Pérez
Maria Fernanda López Fernández
Almudena Pérez Rodríguez
Irene Corrales Insa
Ana Rosa Cid Haro

Investigators

  • Study Chair: Francisco Javier BATLLE, PhD, MD, Complexo Hospitalario Universitario A Coruña. INIBIC. A Coruña. Spain

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 3, 2017

Primary Completion (Anticipated)

August 31, 2021

Study Completion (Anticipated)

August 31, 2021

Study Registration Dates

First Submitted

July 29, 2016

First Submitted That Met QC Criteria

August 11, 2016

First Posted (Estimate)

August 16, 2016

Study Record Updates

Last Update Posted (Actual)

March 20, 2020

Last Update Submitted That Met QC Criteria

March 18, 2020

Last Verified

March 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PCM-EVW-ES.SPANISH REGISTRY

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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