Clinical trial NCT02466789: Investigating a Von Willebrand Factor (VWF) Functional Screening Assay for Assigning the Phenotypic Variants of Von Willebrand Disease (VWD)
Official title: Investigating a Von Willebrand Factor (VWF) Functional Screening Assay for Assigning the Phenotypic Variants of Von Willebrand Disease (VWD)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Von Willebrands Disease
Keywords: Bleeding Disorder, inherited
Von Willebrands Disease
Hematologic Test
VWF
VWD
Lead sponsor: Bleeding and Clotting Disorders Institute Peoria, Illinois
Sponsor class: OTHER
Collaborators: name: Versiti
First posted: 2015-06-09
Enrollment: 134
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: ECOLOGIC_OR_COMMUNITY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: New subjects undergoing evaluation for the diagnosis of VWD that are determined to have VWF:ag or VWF:RCo \<50 IU/dl and or a VWF:RCo/VWF:ag ratio of \<0.7. Also subjects will be included if Type 2N VWD is suspected

Brief summary: The purpose of this study is to improve the investigators ability to diagnose von Willebrand Disease (VWD), a common inherited bleeding disorder. This study will look at a new screening blood test used to determine if a person has VWD. This new screening blood test can determine a diagnosis more rapidly than current blood tests. Also this test could be available at local hospital labs rather than require samples to be sent to bigger more specialized labs.

Detailed description: This investigation will be a prospective, multicenter trial to validate the clinical utility of a novel screening assay as a diagnostic screening assay for VWD variants: Type 1C, 2A, 2B, 2M and 2N. Once the subject is enrolled into the study, a minimum of 0.5ml of citrated plasma will be collected and analyzed at the Bleeding and Clotting Disorders Institute Laboratory in Peoria Illinois. Results will be collected: phenotype function profiles will be determined, statistically analyzed and compared to the qualitative data from Blood Center of Wisconsin. Data is expected to correlate as previously shown in prior studies and will confirm the utility of this assay.

Eligibility criteria: Inclusion Criteria:

* New subjects undergoing evaluation for the diagnosis of VWD determined to have a VWF:Ag or VWF: RCo \< 50 IU/dl and or a VWF:RCo/VWF:Ag of \<0.7. Also subjects will be included if Type 2 N VWD is clinically suspected

Exclusion Criteria:

* Those subjects whose lab results do not meet the inclusion criteria

Primary outcomes:
measure: Validate the novel ELISA-based VWF functional screening assay as a diagnostic screening assay to assign VWD phenotypes 1C, 2A, 2B, 2M and 2N.
timeFrame: planned analysis at 2 years and 4 years with study duration estimated at 4 years
Secondary outcomes:
measure: Further development of the VWF functional screening assay through investigating the incorporation of VWF:CB6 (binding to collagen VI)
timeFrame: study duration 4 years
Other outcomes:
Locations:
city: Peoria
country: United States
facility: Bleeding and Clotting Disorders Institute
state: Illinois
Study officials:
affiliation: Bleeding and Clotting Disorders Institute
name: Jonathan Roberts, MD
role: PRINCIPAL_INVESTIGATOR
References:
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citation: Federici AB, Mannucci PM, Castaman G, Baronciani L, Bucciarelli P, Canciani MT, Pecci A, Lenting PJ, De Groot PG. Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. Blood. 2009 Jan 15;113(3):526-34. doi: 10.1182/blood-2008-04-152280. Epub 2008 Sep 19.
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