Gray Platelet Syndrome (GPS)

At present, there are no specific treatments available for gray platelet syndrome (GPS), and achieving lasting correction of platelets as well as stopping myelofibrosis progression pose numerous challenges. With our extensive knowledge in developing therapies for GPS, Protheragen is optimally positioned to offer bespoke strategies to support your transition from GPS therapy research to commercialization.

Introduction to Gray Platelet Syndrome (GPS)

Gray platelet syndrome (GPS) is classified as a rare autosomal recessive disorder caused by α-granule deficiency of platelets which leads to pale or gray appearance of platelets on Wright-stained blood smears. People suffering from GPS show mild to moderate bleeding diatheses such as epistaxis, menorrhagia, and hemorrhage following surgery, and also have a distinct risk factor for progressive myelofibrosis due to abnormal cytokine release from megakaryocytes.

Fig.1 Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome (GPS). (Sims M C, et al., 2020)

Pathogenesis of Gray Platelet Syndrome (GPS)

First described in 1971, gray platelet syndrome (GPS) arises from biallelic mutations in the NBEAL2 gene, which encodes a critical regulator of α-granule biogenesis in megakaryocytes. The molecular pathogenesis involves defective vesicular trafficking leading to severe α-granule deficiency in platelets, impairing storage and release of essential hemostatic proteins (fibrinogen, vWF) and growth factors (PDGF, TGF-β).

Therapy Development for Gray Platelet Syndrome (GPS)

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.

Our Services

At Protheragen, we are committed to advancing the fight against bleeding disorders, including gray platelet syndrome (GPS), by offering comprehensive diagnostic and therapeutic development services. Our expertise spans the entire spectrum of disease management, from in vitro diagnostic (IVD) kit development to innovative therapeutics development. Leveraging cutting-edge technologies and deep scientific knowledge, we specialize in creating highly accurate disease models that replicate the complexities of GPS.

Therapeutic Development Services

As a leading provider of therapeutic development services, Protheragen is focused on developing a variety of innovative therapies for gray platelet syndrome (GPS) to address the complex challenges in this field.

• Small Molecule Drug Development
• Cell Therapy Development
• Gene Therapy Development

• Therapeutic Antibody Development
• Therapeutic Peptide Development
• Therapeutic Protein Development

Animal Model Development Services

Animal models are essential tools for understanding the biology of gray platelet syndrome (GPS) and evaluating the efficacy and safety of potential therapies.

• Nbeal2^−/− Model: Our scientists used gene editing technology to construct a Nbeal2 knockout mouse model. This model exhibits the same morphological characteristics as human GPS, including thrombocytopenia, thrombocytosis, mild splenomegaly, and lack of α granules in platelets.

Specializing in preclinical research for drug development, Protheragen offers a comprehensive solution that includes pharmacodynamics (PD), pharmacokinetic (PK) and toxicology studies to thoroughly validate and optimize therapies for gray platelet syndrome (GPS). If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

Reference

• Sims M C, Mayer L, Collins J H, et al. Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome[J]. Blood, The Journal of the American Society of Hematology, 2020, 136(17): 1956-1967.