Investigating a Von Willebrand Factor (VWF) Functional Screening Assay for Assigning the Phenotypic Variants of Von Willebrand Disease (VWD)

NCT02466789 | Completed

• 1 other identifier: H14-25321
• Study Type: observational
• Target: 134
• Locations: 1 country
• Sites: 1

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.

Conditions

Von Willebrands Disease

Keywords

Bleeding Disorder, inherited; Von Willebrands Disease; Hematologic Test; VWF; VWD

Outcome Measures

Primary Outcomes (1)

• Validate the novel ELISA-based VWF functional screening assay as a diagnostic screening assay to assign VWD phenotypes 1C, 2A, 2B, 2M and 2N.

  planned analysis at 2 years and 4 years with study duration estimated at 4 years

Secondary Outcomes (1)

• Further development of the VWF functional screening assay through investigating the incorporation of VWF:CB6 (binding to collagen VI)

  study duration 4 years

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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

You may qualify if:

• 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

Sponsors & Collaborators

• Jonathan Roberts: lead
• Versiti Blood Health: collaborator

Study Sites (1)

Bleeding and Clotting Disorders Institute

Peoria, Illinois, 61615, United States

Location

Related Publications (10)

• Nichols WL, Hultin MB, James AH, Manco-Johnson MJ, Montgomery RR, Ortel TL, Rick ME, Sadler JE, Weinstein M, Yawn BP. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia. 2008 Mar;14(2):171-232. doi: 10.1111/j.1365-2516.2007.01643.x.

  PMID: 18315614 BACKGROUND

• Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood. 1987 Feb;69(2):454-9.

  PMID: 3492222 BACKGROUND

• Werner EJ, Broxson EH, Tucker EL, Giroux DS, Shults J, Abshire TC. Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr. 1993 Dec;123(6):893-8. doi: 10.1016/s0022-3476(05)80384-1.

  PMID: 8229521 BACKGROUND

• Werner EJ, Abshire TC, Giroux DS, Tucker EL, Broxson EH. Relative value of diagnostic studies for von Willebrand disease. J Pediatr. 1992 Jul;121(1):34-8. doi: 10.1016/s0022-3476(05)82537-5.

  PMID: 1625090 BACKGROUND

• Castaman G, Eikenboom JC, Bertina RM, Rodeghiero F. Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost. 1999 Sep;82(3):1065-70.

  PMID: 10494765 BACKGROUND

• Rodeghiero F, Castaman G, Tosetto A. von Willebrand factor antigen is less sensitive than ristocetin cofactor for the diagnosis of type I von Willebrand disease--results based on an epidemiological investigation. Thromb Haemost. 1990 Nov 30;64(3):349-52.

  PMID: 2096485 BACKGROUND

• Bazhan SV, Zhdanov VP, Koshil' OI. [Experience in organizing rehabilitative treatment for infectious patients]. Voen Med Zh. 1991 Jul;(7):35-6. No abstract available. Russian.

  PMID: 1835556 BACKGROUND

• Castaman G, Tosetto A, Goodeve A, Federici AB, Lethagen S, Budde U, Batlle J, Meyer D, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Habart D, Hill F, Peake I, Rodeghiero F. The impact of bleeding history, von Willebrand factor and PFA-100((R)) on the diagnosis of type 1 von Willebrand disease: results from the European study MCMDM-1VWD. Br J Haematol. 2010 Nov;151(3):245-51. doi: 10.1111/j.1365-2141.2010.08333.x. Epub 2010 Aug 25.

  PMID: 20738304 BACKGROUND

• 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.

  PMID: 18805962 BACKGROUND

• Federici AB, Canciani MT. Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease. Haematologica. 2009 May;94(5):610-5. doi: 10.3324/haematol.2009.005751.

  PMID: 19407316 BACKGROUND

Biospecimen

Retention: SAMPLES WITHOUT DNA

Sodium Citrated Plasma samples

MeSH Terms

Conditions

von Willebrand Diseases; Hemostatic Disorders

Condition Hierarchy (Ancestors)

Blood Coagulation Disorders, Inherited; Blood Coagulation Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Coagulation Protein Disorders; Blood Platelet Disorders; Hemorrhagic Disorders; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Jonathan Roberts, MD

  Bleeding and Clotting Disorders Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: ECOLOGIC OR COMMUNITY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Assistant Research Director

Study Record Dates

• First Submitted: June 5, 2015
• First Posted: June 9, 2015
• Study Start: July 1, 2015
• Primary Completion: December 31, 2021
• Study Completion: June 30, 2022
• Last Updated: August 10, 2022

Record last verified: 2022-08

Locations

US (1)