Type 3 Von Willebrand International Registries Inhibitor Prospective Study
NCT ID: NCT02460458
Last Updated: 2024-12-27
Study Results
Results available
Outcome measurements, participant flow, baseline characteristics, and adverse events have been published for this study.
View full resultsBasic Information
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Recruitment Status
COMPLETED
Total Enrollment
265 participants
Study Classification
OBSERVATIONAL
Study Start Date
2012-11-05
Study Completion Date
2023-04-17
Brief Summary
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International Registries and Prospective Study on Type 3 Von Willebrand's Disease (VWD3), aimed to assess number, types and risk factors for bleeding and the efficacy and safety of plasma-derived and/or recombinant Von Willebrand Factor (VWF) concentrates used to treat VWD patients.
Detailed Description
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Von Willebrand's Disease (VWD) is the most common inherited bleeding disorder, characterized by a quantitative and/or qualitative deficiency of Von Willebrand Factor (VWF), that plays a major role in early phases of hemostasis. Type 3 Von Willebrand's Disease (VWD3) is due to virtually complete deficiency of VWF and, for this reason, has been also described as "severe VWD". Recurrent Gastro-Intestinal Bleeds (GIB) is one of the most challenging complications encountered in the management of patients with VWD. The commonest cause is angiodysplasia (ANGDYS), but often no cause is identified due to the difficulty in making the diagnosis. In recent years, research from several laboratories has identified multiple roles for VWF in the control of vascular function. Globally, these findings provide the first possible explanation for the presence of ANGDYS in patients with VWD. These vascular malformations in the gastrointestinal (GI) tract are characterized by fragile, leaky mucosal vessels. Combined with the hemostatic dysfunction, these can lead to severe intractable bleeding including GIB. VWD3 is inherited as a recessive trait and heterozygous relatives have mild or no bleeding symptoms. Even if the prevalence of VWD3 is very low, the highest rate is found in Iran and the lowest in southern Europe. However, the actual prevalence of VWD3 is still unknown in most countries, due to the lack of retrospective or prospective studies. Although rare, VWD3 is of major interest because of its severe clinical presentation, the need for replacement therapy with plasma-derived and/or recombinant VWF concentrates and the risk of occurrence of anti-VWF inhibitors after the infusion of VWF concentrates, for which risk factors have not been systematically determined.
The major objectives of the study are: to create an international network among European and Iranian Centers (ratio 1:1), the prospective enrollment of at least 250 VWD3 patients using a common database online, the collection of detailed information about previous bleedings and exposure to plasma-derived and/or recombinant VWF concentrates, the use of bleeding severity score of VWD3 calculated with a common questionnaire, the collection of plasma and DNA samples from all the identified VWD3 patients enrolled for centralized analyses, the confirmation of the local VWD3 diagnosis using centralized tests, Evaluation of VWF gene defects, VWF phenotype and risk of anti-VWF inhibitors through common methods, the evaluation of potential correlations between phenotypic results (including markers of angiogenesis) and GIB occurrence, the objective evaluation of severity of GIB in VWD3 patients, the assessment of frequency and sites of bleeding in VWD3 patients followed-up for 2 prospective observation periods (2 years each: 2017-2018 and 2020-2022), the efficacy assessment of the plasma-derived and/or recombinant VWF concentrates used to treat VWD3 (on demand versus prophylaxis) using the most objective criteria for efficacy during 2 prospective observation periods (2 years each: 2017-2018 and 2020-2022), the evaluation of the efficacy and safety of plasma-derived and/or recombinant VWF concentrates in the treatment of GIB during 2 prospective observation periods (2 years each: 2017-2018 and 2020-2022), in comparison to the use of anti-angiogenetic agents within the standard clinical setting.
To these purposes, a cohort of at least 250 patients with diagnosis of VWD3 will be enrolled using homogenous and standardized criteria.
The work planned to achieve the objectives of the project will be divided in three parts:
* the first part deals with standardized criteria for enrolment and collection of retrospective clinical and laboratory data, to be confirmed by centralized laboratories;
* the second part involves a further characterization of clinical and laboratory parameters, collected in the retrospective phase, including prevalence of anti-VWF inhibitors, advanced laboratory tests to further identify VWD3, mutations analyses of the VWF gene;
* the third part of the study is divided in two parts: a first prospective observation and a second prospective observation. The third part for the first time deals with the prospective clinical observation in a large cohort of VWD3 patients all previously well characterized by an international panel of experts.
The major objectives of the study are: to create an international network among European and Iranian Centers (ratio 1:1), the prospective enrollment of at least 250 VWD3 patients using a common database online, the collection of detailed information about previous bleedings and exposure to plasma-derived and/or recombinant VWF concentrates, the use of bleeding severity score of VWD3 calculated with a common questionnaire, the collection of plasma and DNA samples from all the identified VWD3 patients enrolled for centralized analyses, the confirmation of the local VWD3 diagnosis using centralized tests, Evaluation of VWF gene defects, VWF phenotype and risk of anti-VWF inhibitors through common methods, the evaluation of potential correlations between phenotypic results (including markers of angiogenesis) and GIB occurrence, the objective evaluation of severity of GIB in VWD3 patients, the assessment of frequency and sites of bleeding in VWD3 patients followed-up for 2 prospective observation periods (2 years each: 2017-2018 and 2020-2022), the efficacy assessment of the plasma-derived and/or recombinant VWF concentrates used to treat VWD3 (on demand versus prophylaxis) using the most objective criteria for efficacy during 2 prospective observation periods (2 years each: 2017-2018 and 2020-2022), the evaluation of the efficacy and safety of plasma-derived and/or recombinant VWF concentrates in the treatment of GIB during 2 prospective observation periods (2 years each: 2017-2018 and 2020-2022), in comparison to the use of anti-angiogenetic agents within the standard clinical setting.
To these purposes, a cohort of at least 250 patients with diagnosis of VWD3 will be enrolled using homogenous and standardized criteria.
The work planned to achieve the objectives of the project will be divided in three parts:
* the first part deals with standardized criteria for enrolment and collection of retrospective clinical and laboratory data, to be confirmed by centralized laboratories;
* the second part involves a further characterization of clinical and laboratory parameters, collected in the retrospective phase, including prevalence of anti-VWF inhibitors, advanced laboratory tests to further identify VWD3, mutations analyses of the VWF gene;
* the third part of the study is divided in two parts: a first prospective observation and a second prospective observation. The third part for the first time deals with the prospective clinical observation in a large cohort of VWD3 patients all previously well characterized by an international panel of experts.
Conditions
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Type 3 Von Willebrand's Disease
Keywords
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Factor VIII
Hemorrhage
Type 3 Von Willebrand's Disease
Von Willebrand Factor
Von Willebrand's Disease
Hemostasis
Gastro-Intestinal Bleeds
Study Design
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Observational Model Type
COHORT
Study Time Perspective
OTHER
Study Groups
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Type 3 Von Willebrand's Disease (VWD3)
Patients with diagnosis of Type 3 Von Willebrand's Disease
Von Willebrand Factor
Intervention Type
DRUG
Replacement therapy with plasma-derived and/or recombinant VWF concentrates on-demand or under prophylaxis therapeutic scheme.
Interventions
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Von Willebrand Factor
Replacement therapy with plasma-derived and/or recombinant VWF concentrates on-demand or under prophylaxis therapeutic scheme.
Intervention Type
DRUG
Other Intervention Names
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Plasma-derived and/or recombinantVon Willebrand Factor (VWF) concentrates
Eligibility Criteria
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Inclusion Criteria
* Male and female of any age, including infants, children, adolescent and adults
* Informed Consent obtained (parents should sign for patients \< 18 y.o.)
* Previous Diagnosis of VWD3 (VWF Antigen: undetectable or \<5 U/dL)
* Detailed information on inherited pattern, history of bleeding, previous exposure to blood products
* Availability of plasma and DNA samples
* Informed Consent obtained (parents should sign for patients \< 18 y.o.)
* Previous Diagnosis of VWD3 (VWF Antigen: undetectable or \<5 U/dL)
* Detailed information on inherited pattern, history of bleeding, previous exposure to blood products
* Availability of plasma and DNA samples
Exclusion Criteria
• VWD3 patients who may not be available for follow-up
Eligible Sex
ALL
Accepts Healthy Volunteers
No
Sponsors
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Sintesi Research Srl
INDUSTRY
Sponsor Role
collaborator
Fondazione Angelo Bianchi Bonomi
OTHER
Sponsor Role
lead
Responsible Party
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Responsibility Role
SPONSOR
Principal Investigators
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Augusto B. Federici, MD
Role: STUDY_DIRECTOR
Hematology and Transfusion Medicine, L. Sacco University Hospital, University of Milan, Via G. B. Grassi, 74 20157 Milan, Italy
Locations
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Helsinki University Central Hospital, Department Internal Medicine, Coagulation Disorders, at Haematology and Laboratory Services
Helsinki, , Finland
Site Status
Institut d'Hématologie - Hôpital Cardiologique - University of Lille - Haematology Department
Lille, , France
Site Status
Centre Régional de Traitement de l'Hémophilie - Laboratoire d'Hématologie
Nantes, , France
Site Status
University Clinic Bonn - Institute of Experimental Haematology & Transfusion Medicine
Bonn, , Germany
Site Status
University Children's Hospital - Department of Pediatric Hematology and Oncology
Hamburg, , Germany
Site Status
Department of Haematology, Haemostasis, Oncology and Stem Cell Transplantation - Hannover Medical School - Haemophilia Care Centre
Hanover, , Germany
Site Status
St. Istvan & St. Laszlo Hospital of Budapest - Hematology and Stem Cell Transplantation
Budapest, , Hungary
Site Status
Ahvaz Jundishpur University of Medical Sciences - Research Center for Thalassemia & Hemoglobinopathy - Division of Hematology & Oncology
Ahvāz, , Iran
Site Status
Seid-ol-Shohada Hospital - Hemophilia Center - Esfahan University of Medical Science
Isfahan, , Iran
Site Status
Hemophilia- Thalassaemia Center of Mashhad (Sarvar Clinic) - Mashad University of Medical Science
Mashhad, , Iran
Site Status
Nemazee Hospital Hemophilia Center - Shiraz University of Medical Science
Shiraz, , Iran
Site Status
Iranian Hemophilia Comprehensive Treatment Centre - Iranian Hemophilia Society
Tehran, , Iran
Site Status
Mofid Comprehensive Care Centre for Children with Hemophilia - Shahid Beheshti University of Medical Science
Tehran, , Iran
Site Status
Thrombosis Hemostasis Research Center - Vali-Asr Hospital - Emam Khmeini Complex Hospital - Tehran University of Medical Science
Tehran, , Iran
Site Status
Azienda Ospedaliera Policlinico Consorziale di Bari - Unità Operativa Semplice di Emostasi e Trombosi
Bari, , Italy
Site Status
Azienda Ospedaliera Universitaria Careggi - Agenzia per l'Emofilia - Centro di Riferimento Coagulopatie Congenite
Florence, , Italy
Site Status
Centro Emofilia e Trombosi - Fondazione Angelo Bianchi Bonomi - IRCCS Ospedale Ca' Granda - Dip. di Medicina Interna - Università degli Studi di Milano
Milan, , Italy
Site Status
Dipartimento di Biotecnologie Cellulari ed Ematologia - Università "Sapienza" di Roma - Policlinico Umberto I
Roma, , Italy
Site Status
Dipartimento di Terapie Cellulari ed Ematologia - Centro Malattie Emorragiche e Trombotiche - Ospedale San Bortolo
Vicenza, , Italy
Site Status
Leiden University Medical Center - Department of Hematology - Hemostasis and Thrombosis Center
Leiden, , Netherlands
Site Status
Erasmus Medical Center - Department of Hematology
Rotterdam, , Netherlands
Site Status
Complejo Hospitalario Universitario de A Coruña - Servicio de Hematología y Hemoterapia
A Coruña, , Spain
Site Status
Hospital Universitari General Vall d'Hebron - Unidad de Hemofilia
Barcelona, , Spain
Site Status
Lund University - Centre for Thrombosis and Haemostasis - Skane University Hospital
Malmo, , Sweden
Site Status
Central Manchester University Hospital NHS Foundation Trust - Manchester Royal Infirmary - Manchester Royal Eye Hospital
Manchester, , United Kingdom
Site Status
Countries
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Finland
France
Germany
Hungary
Iran
Italy
Netherlands
Spain
Sweden
United Kingdom
References
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Rodeghiero F, Castaman G, Tosetto A, Batlle J, Baudo F, Cappelletti A, Casana P, De Bosch N, Eikenboom JC, Federici AB, Lethagen S, Linari S, Srivastava A. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. J Thromb Haemost. 2005 Dec;3(12):2619-26. doi: 10.1111/j.1538-7836.2005.01663.x.
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Cattaneo M, Federici AB, Lecchi A, Agati B, Lombardi R, Stabile F, Bucciarelli P. Evaluation of the PFA-100 system in the diagnosis and therapeutic monitoring of patients with von Willebrand disease. Thromb Haemost. 1999 Jul;82(1):35-9.
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Mannucci PM, Lattuada A, Castaman G, Lombardi R, Colibretti ML, Ciavarella N, Rodeghiero F. Heterogeneous phenotypes of platelet and plasma von Willebrand factor in obligatory heterozygotes for severe von Willebrand disease. Blood. 1989 Nov 15;74(7):2433-6.
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Mannucci PM, Federici AB. Antibodies to von Willebrand factor in von Willebrand disease. Adv Exp Med Biol. 1995;386:87-92. doi: 10.1007/978-1-4613-0331-2_7. No abstract available.
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Federici AB. Clinical and molecular markers of inherited von Willebrand disease type 3: are deletions of the VWF gene associated with alloantibodies to VWF? J Thromb Haemost. 2008 Oct;6(10):1726-8. doi: 10.1111/j.1538-7836.2008.03146.x. No abstract available.
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Ngo KY, Glotz VT, Koziol JA, Lynch DC, Gitschier J, Ranieri P, Ciavarella N, Ruggeri ZM, Zimmerman TS. Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. Proc Natl Acad Sci U S A. 1988 Apr;85(8):2753-7. doi: 10.1073/pnas.85.8.2753.
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Schneppenheim R, Krey S, Bergmann F, Bock D, Budde U, Lange M, Linde R, Mittler U, Meili E, Mertes G, et al. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum Genet. 1994 Dec;94(6):640-52. doi: 10.1007/BF00206958.
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Schneppenheim R, Castaman G, Federici AB, Kreuz W, Marschalek R, Oldenburg J, Oyen F, Budde U. A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3. J Thromb Haemost. 2007 Apr;5(4):722-8. doi: 10.1111/j.1538-7836.2007.02460.x. Epub 2007 Feb 26.
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Mancuso DJ, Tuley EA, Castillo R, de Bosch N, Mannucci PM, Sadler JE. Characterization of partial gene deletions in type III von Willebrand disease with alloantibody inhibitors. Thromb Haemost. 1994 Aug;72(2):180-5.
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Xie F, Wang X, Cooper DN, Lan F, Fang Y, Cai X, Wang Z, Wang H. Compound heterozygosity for two novel mutations (1203insG/Y1456X) in the von Willebrand factor gene causing type 3 von Willebrand disease. Haemophilia. 2007 Sep;13(5):645-8. doi: 10.1111/j.1365-2516.2007.01514.x.
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Wetzstein V, Budde U, Oyen F, Ding X, Herrmann J, Liebig B, Schneppenheim R. Intracranial hemorrhage in a term newborn with severe von Willebrand disease type 3 associated with sinus venous thrombosis. Haematologica. 2006 Dec;91(12 Suppl):ECR60.
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BACKGROUND
Mohlke KL, Nichols WC, Rehemtulla A, Kaufman RJ, Fagerstrom HM, Ritvanen KL, Kekomaki R, Ginsburg D. A common frameshift mutation in von Willebrand factor does not alter mRNA stability but interferes with normal propeptide processing. Br J Haematol. 1996 Oct;95(1):184-91. doi: 10.1046/j.1365-2141.1996.7572377.x.
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Martin-Grace J, Tamagno G. Somatostatin analogs in the medical management of occult bleeding of the lower digestive tract. Gastroenterol Res Pract. 2015;2015:702921. doi: 10.1155/2015/702921. Epub 2015 Mar 9.
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Provided Documents
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Document Type: Study Protocol and Statistical Analysis Plan
Other Identifiers
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ABB-11-01
Identifier Type: -
Identifier Source: org_study_id