Collection of Blood in Normal Subjects and Subjects With Von Willebrand Disease (VWD)
Summary
Von Willebrand disease is an inherited bleeding disorder that impacts the blood's ability to clot properly. Von Willebrand disease is cause by the lack or not working substance in the blood known as Von Willebrand factor.
Current therapy for Von Willebrand disease includes desmopressin acetate (DDAVP) and /or VWF/FVIII concentrates. Patients with severe Von Willebrand disease face a lifetime of weekly treatments and mounting medical bills. Gene therapy could help these patients improve their quality of life by providing the missing factors necessary for the blood's ability to clot properly.
The gene transfer options being studied include naked DNA, viral gene transfer vectors encoding Von Willebrand factor transgenes, and ex vivo cell therapy. The latter involves transplantation of the patient's own cells modified with a corrected copy of the defective gene. Human blood outgrowth endothelial cells (BOEC) display all the properties needed for successful ex vivo cell therapy. We plan to obtain blood samples from normal research subjects and patients with Von Willebrand Disease in order to isolate blood outgrowth endothelial cells (BOEC) from peripheral blood, and develop a ex vivo gene therapy for Von Willebrand Disease.
Study Design
Observational Model: Case Control, Time Perspective: Cross-Sectional
Conditions
Von Willebrand Disease
Location
Weill Cornell Medical College
New York
New York
United States
10021
Status
Active, not recruiting
Source
Weill Medical College of Cornell University
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT00630448
- Information obtained from ClinicalTrials.gov on July 15, 2010
Medical and Biotech [MESH] Definitions
Von Willebrand Disease, Type 1
A subtype of von Willebrand disease that results from a partial deficiency of VON WILLEBRAND FACTOR.
Von Willebrand Disease, Type 2
A subtype of von Willebrand disease that results from qualitative deficiencies of VON WILLEBRAND FACTOR. The subtype is divided into several variants with each variant having a distinctive pattern of PLATELET-interaction.
Von Willebrand Disease, Type 3
A subtype of von Willebrand disease that results from a total or near total deficiency of VON WILLEBRAND FACTOR.
Von Willebrand Factor
A high-molecular-weight plasma protein, produced by endothelial cells and megakaryocytes, that is part of the factor VIII/von Willebrand factor complex. The von Willebrand factor has receptors for collagen, platelets, and ristocetin activity as well as the immunologically distinct antigenic determinants. It functions in adhesion of platelets to collagen and hemostatic plug formation. The prolonged bleeding time in VON WILLEBRAND DISEASES is due to the deficiency of this factor.
Von Willebrand Diseases
Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.
Clinical Trials
Phase I Study of Human Von Willebrand Factor for Von Willebrand's Disease
OBJECTIVES: I. Evaluate the effect of a new von Willebrand factor concentrate on bleeding time, in vivo recovery, and circulating half-life of the infused factor in patients with von Will...
National Study of Moderate and Severe Von Willebrand Disease in the Netherlands
The objective of this study is to assess the clinical presentation, the treatment and the complications of the disease and treatment in moderate and severe von Willebrand disease. Another...
Phase II Study of IL-11 (Neumega) in Von Willebrand Disease
This study is testing the use of rhIL-11 (recombinant interleukin 11, Neumega) in individuals with Von Willebrand disease. The purpose is to evaluate: 1. if rhIL-11 corrects VWF (Von Wi...
The objectives of this study are to evaluate the immediate tolerability and safety of rVWF:rFVIII in subjects with Type 3 Von Willebrand Disease after administration of various dosages of...
The Von Willebrand Disease (VWD) International Prophylaxis Study
The von Willebrand Disease Prophylaxis Network (vWD PN) is an international study group formed with the goal of investigating the role of prophylaxis in clinically severe VWD that is non-r...
PubMed Articles
Principles of care for the diagnosis and treatment of von Willebrand disease.
Von Willebrand disease is a common autosomal inherited bleeding disorder caused by quantitative or qualitative defects of von Willebrand factor, a multi-adhesive protein that binds platelets to expose...
No excess surgical blood loss in patients with acquired type 2A von Willebrand disease.
Abstract Objectives. Acquired type 2A von Willebrand disease may develop as a consequence of aortic valve stenosis and is associated with varying degrees of bleeding tendency. It remains unknown, whet...
We have studied the effect of a 13 bp deletion in the promoter of the von Willebrand factor (VWF) gene in a patient with type 1 von Willebrand disease (VWD). The index case has a VWF:Ag of 0.49 IU/ mL...
Evaluation of an Automated von Willebrand Factor Activity Assay in von Willebrand Disease.
We evaluated the use of the turbidimetric HemosIL von Willebrand Factor (VWF) Activity assay (VWF:Act) on the STA-R automated coagulometer (Stago, Asnières, France) for the diagnosis of von Willebran...
Congenital von Willebrand's disease and clinical hypothyroidism.
Data from case reports and systematic reviews suggest an association of Hypothyroidism and Acquired von Willebrand's syndrome. It is not known if congenital von Willebrand's disease is associated with...
