Current treatments for Bernard-Soulier syndrome (BSS) are lacking in efficacy, and there is an urgent need for more specific and effective treatment options for BSS. At Protheragen, we concentrate on creating new therapeutics and developing precise animal models in order to speed up the preclinical studies of potential therapies for BSS. With us, you can be assured that your research will be enriched with relevant data which will help propel your drug development efforts.
Bernard-Soulier syndrome (BSS) is a rare disorder characterized by macrothrombocytopenia, prolonged bleeding time, and impaired bleeding adhesion. For every million people, one person suffers from the disease which causes serious bleeding of membranes (such as epistaxis, gingival hemorrhage, menorrhagia) and is frequently misdiagnosed as immune thrombocytopenia (ITP) due to its clinical similarity.
Fig.1 Inherited platelet disorders. (Palma-Barqueros, Verónica, et al., 2021)
Bernard-Soulier syndrome (BSS) arises from genetic mutations in components of the glycoprotein Ib-IX-V complex (GP1BA, GP1BB, or GP9), leading to defective platelet adhesion due to impaired von Willebrand factor binding. These mutations cause macrothrombocytopenia through disrupted platelet production and cytoskeletal organization, while accelerated clearance of abnormal platelets exacerbates thrombocytopenia.
| Therapy | Mechanism of Action | Targets | Development Stage |
|---|---|---|---|
| Antifibrinolytic Agents | Inhibits plasminogen activation and fibrin degradation, stabilizing existing clots. | Plasminogen | Clinical Application |
| Platelet Transfusion | Provides functional platelets containing normal GPIb-IX-V complexes. | Circulating Platelets | Clinical Application |
| Desmopressin Acetate (DDAVP) | Increases plasma levels of von Willebrand factor and factor VIII. | VWF/FVIII | Early Research |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Recognizing the complexity of diagnosing and treating Bernard-Soulier syndrome (BSS), Protheragen is committed to building a team of experts to provide cutting-edge diagnostic and therapeutic development solutions. Our commitment lies in providing a variety of customized therapy development services to meet the diverse research needs of our customers. We also excel in generating precise disease models that are carefully engineered to replicate the unique features of BSS. These models are valuable tools for validating the safety and efficacy of potential therapeutics.
At Protheragen, we are dedicated to supporting the development of innovative therapies through comprehensive preclinical research services. Our expertise spans pharmacodynamics (PD), pharmacokinetic (PK) and toxicology studies, ensuring a thorough evaluation of your therapeutic candidates. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
Myeloproliferative Disorders (MPDs)
Bone Marrow Failure Syndromes (BMFS)
