Scott Syndrome

As of now, the treatment available for Scott syndrome is mainly supportive care, which includes platelet transfusions, with no targeted therapies. Leveraging novel understanding of the pathogenesis and genetic components of Scott syndrome, Protheragen is developing targeted therapies, precision animal models, as well as advancing preclinical drug development. We are focused on providing all-inclusive support to optimize the therapeutic development workflow.

Overview of Scott Syndrome

Scott syndrome is a rare genetic condition defined by abnormal bleeding due to a hereditary cause. There is a lack of platelet procoagulant activity, yet the platelet count is normal and aggregation is intact. This syndrome was first noted in 1979 and shows features of mild to moderate bleeding which includes mucous membrane bleeding, prolonged post-surgical hemorrhage and excessive menstrual bleeding in women. Scott syndrome is an autosomal recessive genetic disorder having prevalence of less than 1 in 1 million.

Fig.1 The diagnostic process for individuals with Scott syndrome. (Montague S J, et al., 2024)

Pathogenesis of Scott Syndrome

Scott syndrome is a genetic hemorrhagic condition associated with defective loss of function mutations in TMEM16F (Anoctamin-6), a calcium-dependent phospholipid scramblase required for phosphatidylserine (PS) exposure on activated platelets. This particular deficiency blocks tenase and prothrombinase complex formation, resulting in insufficient thrombin burst and unstable fibrin clot formation while normal platelet aggregation occurs.

Therapy Development for Scott Syndrome

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 focus on fulfilling all the research and development needs of Scott syndrome. Our scope of work includes developing diagnostics and targeted therapeutics, precision disease modeling, and comprehensive preclinical evaluation. We emphasize the progression of novel therapeutics which are deeply validated in Scott syndrome-specific biologically relevant models.

Therapeutic Development Services

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

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

Animal Model Development Services

• TMEM16F Mutant Models: To simulate Scott syndrome, our scientists used gene editing technology to introduce the g.8912219 G>A mutation into the TMEM16F gene, thereby constructing an accurate animal model. These models exhibit symptoms such as epistaxis, hyphema, intramuscular hematoma, and prolonged postoperative bleeding.

As a research service provider, Protheragen offers comprehensive pharmacodynamic (PD), pharmacokinetic (PK), and toxicology research services to support the development and regulatory approval of potential therapies for Scott syndrome. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.

Reference

• Montague S J, Price J, Pennycott K, et al. Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome[J]. Journal of Thrombosis and Haemostasis, 2024, 22(8): 2281-2293.