This trial is active, not recruiting.

Condition type 3 von willebrand's disease
Sponsor Fondazione Angelo Bianchi Bonomi
Collaborator Sintesi Research Srl
Start date December 2012
End date April 2018
Trial size 250 participants
Trial identifier NCT02460458, ABB-11-01


A 5 - year International Registries and Prospective Study on VWD Type 3, aimed to assess number, types and risk factors for bleeding and the efficacy and safety of VWF concentrates used to treat VWD patients .

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Observational model cohort
Diagnosis of Type 3 von Willebrand Disease

Primary Outcomes

Bleeding Severity Score (BSS)
time frame: 64 months (retrospective phase + prospective phase)
General laboratory tests for VWD3 diagnosis (composite)
time frame: 36 months (retrospective + confirmatory phase)
Test for Anti-VWF Antibodies
time frame: 36 months (retrospective + confirmatory phase)
Molecular diagnosis of VWF in DNA
time frame: 36 months (retrospective + confirmatory phase)
Previous use of blood products
time frame: 24 months (retrospective)
Allergic reactions during use of VWF-containing concentrates
time frame: 24 months (retrospective)
Record of bleeding episodes
time frame: 24 months (prospective phase)
Adverse events
time frame: 24 months (prospective phase)
Type of VWF/FVIII-containing concentrates in use
time frame: 24 months (prospective phase)

Eligibility Criteria

Male or female participants of any age.

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 Exclusion Criteria: • VWD3 patients who may not be available for follow-up

Additional Information

Description Von Willebrand 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 haemostasis. VWD type 3 (VWD3) is due to virtually complete deficiency of VWF and, for this reason, has been also described as "severe VWD". 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 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 250 VWD3 patients using a common database online, the collection of detailed information about previous bleedings and exposure to VWF concentrates, the use of bleeding severity score of VWD3 calculated with a common questionnaire, the evaluation of the presence of VWF gene defects with VWF phenotype and risk of anti-VWF inhibitors, the evaluation of anti-VWF antibody titre through common methods, the VWD3 gene analysis, the observation of frequency and sites of bleeding in VWD3 followed-up for 2 years, and the efficacy assessment of the VWF concentrates used to treat VWD3 using the most objective criteria for efficacy. To these purposes, a cohort of 250 patients with diagnosis of Type 3 von Willebrand Disease 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 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.
Trial information was received from ClinicalTrials.gov and was last updated in June 2015.
Information provided to ClinicalTrials.gov by Fondazione Angelo Bianchi Bonomi.