Work recognised in the 2nd edition of the Martín Villar Haemostasis Awards
Grifols is committed to endorsing scientific research through its Martín Villar Haemostasis Awards. In this second edition, a group of judges comprising prestigious specialists agreed to honour the work of researchers Giancarlo Castaman from the Cellular Therapy and Haematology department of the San Bortolo Hospital (Vicenza, Italy), Eduardo Tizzano Ferrari, of the Genetic Service and Research Institute of the Santa Creu i Sant Pau Hospital (Barcelona, Spain) and Carlos Daniel de Brasi of the Mariano R. Castex Institute for Haematological Research of the National Academy of Medicine of Buenos Aires, Argentina.
Grifols established these awards to help aid the development of research in the field of blood coagulation disorders and to honour Dr. José Martín Villar. This second edition saw a large number of international researchers taking part. The winner of the first prize will receive 25,000 euros while second and third prize winners will get 10,000 and 5,000 euros, respectively.
1.Giancarlo CASTAMAN. "Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD".
2.Eduardo TIZZANO FERRARI. "Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites".
3.Carlos Daniel DE BRASI. "Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene".
1st research prize
"Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD".
The study evaluates the response to desmopressin, an agonist molecule that induces the endogenous release of von Willebrand factor (vWF), in 77 patients with type 1 von Willebrand disease (vWD) enrolled within the Molecular and Clinical Markers for the Diagnosis and Management of type 1 vWD European project.
Previous studies suggested that the response to desmopressin in type 1 vWD could be affected by the conformational structure or by the presence and location of mutations in the vWF molecule. Patients in the study were defined as complete responders if both ristocetin cofactor activity (vWF:RCo) and factor VIII procoagulant activity (FVIII:C) were 50 IU/dL or higher after desmopressin. Partial response was considered if vWF:Rco or FVIII:C were lower than 50 IU/dL but increased at least 3-fold.
Eighty three percent of the patients (namely 64) showed complete response, 13% (10) had a partial one, and 4% (3 patients) were nonresponders. Patients with some abnormality of vWF multimeric pattern had significantly lower basal FVIII:C and vWF, lower vWF:Rco / Ag ratio and less complete responses to desmopressin than patients with a normal multimeric pattern.
The presence of some mutations (at codons 1130 and 1205 in the vWF D´-D3 domain) had the greatest relative increase, but shortest FVIII and vWF half-lives after infusion. Most partial and nonresponders patients (61.5%) had mutations in the A1-A3 vWF domains.
This study indicates that response to desmopressin is largely affected by the basal multimeric pattern and the specific type and location of mutations in vWF. The results also
reinforce the need for performing a desmopressin test-infusion in patients with clinically significant type 1 vWD.