Von Willebrand Disease (VWD)
Von Willebrand disease (VWD) is an inherited bleeding disorder. Our company is committed to developing cutting-edge diagnostics and therapeutics for managing VWD. As your reliable partner in VWD research, we offer streamlined and comprehensive solutions to meet all your scientific research requirements.
Introduction to VWD
VWD is an inherited bleeding disorder characterized by a deficiency or dysfunction of von Willebrand factor (VWF), a key protein involved in the blood clotting process. The prevalence of VWD associated with major bleeding is estimated to be approximately 1:10,000. VWD encompasses a range of subtypes, each varying in severity. The three main subtypes include VWD type 1, VWD type 2, and VWD type 3.
| Disease Subtypes | Causes | Symptoms | Prevalence |
|---|---|---|---|
| VWD Type 1 | VWF partial quantitative deficiency | Mild bleeding symptoms, such as nosebleeds | 1/1,000-1/10,000 |
| VWD Type 2 | VWF qualitative defects | Mild to moderate bleeding symptoms | Lower than type 1, higher than type 3 |
| VWD Type 3 | VWF severe quantitative deficiency | Severe bleeding symptoms, such as prolonged bleeding from injury or surgery | 1/1,000,000 |
Fig. 1 Structure of von Willebrand factor (VWF) and the influence on the endothelium of continuous and pulsatility flow. (Wang, Haiwang, et al., 2023)Pathogenesis of VWD
The pathogenesis of VWD involves abnormalities in the structure, function, or secretion of VWF.
Von Willebrand Factor (VWF)
VWF is primarily synthesized in endothelial cells and megakaryocytes. It plays a crucial role in platelet adhesion and aggregation, as well as stabilizing coagulation factor VIII (FVIII) in the bloodstream. Defects in VWF can disrupt these vital functions, leading to impaired clot formation and increased bleeding tendency.
VWF Gene
Mutations in the VWF gene or genes encoding proteins involved in VWF synthesis, processing, or secretion, leading to defects in VWF quantity or quality. Interactions between genetic factors, environmental triggers, and hormonal fluctuations further influence the symptom presentation and severity of VWD.
Targets of VWD Therapy
Von Willebrand Factor (VWF)
One of the main targets in the development of VWD therapies is to increase the levels of functional VWF in the blood. For example, intravenous administration of VWF concentrates such as Alphanate, Wilate, and Humate-P can increase VWF levels and restore hemostasis. DDAVP can stimulate endothelial cells to release endogenous VWF and FVIII to increase VWF levels.
FIX and FX
Promoting platelet adhesion and aggregation helps promote thrombosis and prevents excessive bleeding in VWD. For example, Emicizumab is a novel biologic that mimics the function of FVIII by bridging activated factor IX and factor X, thereby promoting thrombosis. Emicizumab has shown potential to improve hemostasis in individuals with VWD and FVIII deficiency.
Our Services
With years of extensive involvement in rare disease research, our company boasts a highly skilled team and vast expertise. We harness state-of-the-art technology to drive the development of innovative diagnostic tools, enabling early detection of VWD. We advance therapeutic drug development by establishing animal models and conducting in-depth investigations into VWD pathogenesis and targets.
Our Research Platforms
Our Services
Animal Models of VWD
| Spontaneous Models | ||
|---|---|---|
| Spontaneous animal models of VWD occur naturally and exhibit VWD-like symptoms due to genetic mutations that affect VWF synthesis, stability, or function. These models are typically identified in specific animal species and strains and serve as important tools for studying VWD. | ||
| Genetically Engineered Models | ||
| Genetic manipulation techniques, such as gene targeting, gene knockout, or gene editing, are employed to introduce specific mutations or deletions in the VWF gene or genes involved in VWF processing and function. These techniques enable the creation of animal models that closely resemble the genetic defects observed in human VWD. | ||
| Optional Models |
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| Optional Species | Mice, Dogs (Doberman Pinschers and Scottish Terriers), Pigs, Cats, Horses Non-human Primates (Baboons and Macaques), Others | |
No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please contact us for more details and quotation information of related services.
References
- Wang, Haiwang, et al. "Shear-induced acquired von Willebrand syndrome: an accomplice of bleeding events in adults on extracorporeal membrane oxygenation support." Frontiers in Cardiovascular Medicine 10 (2023).
- Brooks, Marjory B., and James L. Catalfamo. "von Willebrand disease." Schalm's Veterinary Hematology (2022): 731-738.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.