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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.

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