Molecular and clinical markers for diagnosis and management of type 1 von willebrands disease

Objective

Type 1 von Willebrands disease (VWD) is the most common inherited bleeding disorder and results from deficiency of von Willebrand factor (VWF), a plasma protein required for normal haemostasis. Diagnosis is based on laboratory tests and a bleeding history, but can be equivocal. Precise diagnosis is important for the patient and family; misdiagnosis leads to unnecessary medical and social burdens. This project will determine molecular and clinical markers for the diagnosis and management of type 1 VWD by assessing 200 families with type 1 VWD, recruited by 12 Partners. The phenotypic basis of the diagnosis will be re-examined utilising International standards and result confirmation, new tests will be assessed and the genetic basis determined by VWF gene analysis and expression. Data on precise molecular, clinical and laboratory markers for type 1VWD will be produced.

Programme(s)

• FP5-LIFE QUALITY - Specific Programme for research, technological development and demonstration on "Quality of life and management of living resources", 1998-2002

Topic(s)

• 1.1.1.-7. - Chronic and degenerative diseases, cancer, diabetes, cardivascular diseases and rare diseases

Funding Scheme

CSC - Cost-sharing contracts

Coordinator

UNIVERSITY OF SHEFFIELD

Address

Glossop Road
S10 2JF Sheffield
United Kingdom

Participants (12)

AZIENDA U.L.S.S N6 "VICENZA"

Italy

Address

Viale Rodolfi 37
36100 Vicenza

BIRMINGHAM CHILDREN'S HOSPITAL NATIONAL HEALTH SERVICE TRUST

United Kingdom

Address

Steelhouse Lane
B4 6NH Birmingham

CENTRE HOSPITALIER RÉGIONAL ET UNIVERSITAIRE DE LILLE

France

Address

Rue Philippe Marache
59037 Lille

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE

France

Address

Rue De Tolbiac, 101
75654 Paris

INSTITUTE OF HAEMATOLOGY AND BLOOD TRANSFUSION

Czechia

Address

U. Nemocnice 1
128 20 Praha 2

LABORATOIRE FRANÇAIS DU FRACTIONNEMENT ET DES BIOTÉCHNOLOGIES

France

Address

Rue De Trévise 59
59011 Lille

LEIDEN UNIVERSITY

Netherlands

Address

72,Rapenburg 70
2311 EZ Leiden

LUND UNIVERSITY

Sweden

Address

Soedra Foerstadsgatan 101
205 02 Malmoe

OSPEDALE MAGGIORE POLICLINICO - ISTITUTO DI RICOVERO E CURA A CARATTERE SCIENTIFICO

Italy

Address

Via Pace 9
20122 Milano

SERVICIO GALEGO DE SAUDE - SERGAS

Spain

Address

Xubias De Arriba, 84
15006 La Coruna

UNIVERSITY OF HAMBURG

Germany

Address

52,Martinistrasse 52
20246 Hamburg

UNIVERSITY OF LEICESTER

United Kingdom

Address

University Road
LE1 7RH Leicester