Due to its rareness, the therapeutic development of congenital afibrinogenemia faces many challenges. With our deep expertise in congenital afibrinogenemia therapy development, Protheragen is well positioned to provide tailored solutions and comprehensive support to facilitate your journey from congenital afibrinogenemia therapy research to commercialization.
Congenital afibrinogenemia is a rare autosomal recessive hemorrhage disorder characterized by the complete absence of fibrinogen due to mutations in the FGA, FGB or FGG genes. The affected individuals experience severe bleeding symptoms from birth, including umbilical cord bleeding, intracranial hemorrhage and frequent mucosal skin bleeding.
Fig.1 Clinical characteristics of afibrinogenemia. (Casini, Alessandro, et al., 2021)
Congenital afibrinogenemia is caused by biallelic mutations in fibrinogen genes (FGA, FGB, or FGG) that completely impair fibrinogen synthesis and secretion, resulting in undetectable plasma fibrinogen levels. This defect leads to impaired primary hemostasis and secondary hemostasis failure, while paradoxically increasing thrombosis risk during replacement therapy due to thrombin generation imbalance.
Fig.2 Diagnosis of congenital afibrinogenemia and hypofibrinogenemia. (Simurda, Tomas, et al., 2021)
| Therapy | Mechanism of Action | NCT Number | Research Phase |
|---|---|---|---|
| Human Plasma-Derived Fibrinogen Concentrate | Replaces missing fibrinogen to restore clot formation and platelet function. | NCT02281500 | Phase I/II |
| Octafibrin | Recombinant fibrinogen with enhanced stability and pathogen safety. | NCT02408484 | Phase III |
| BT524 | Engineered fibrinogen variant with prolonged half-life and reduced immunogenicity. | NCT02065882 | Phase III |
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.
At Protheragen, we specialize in providing comprehensive research and development solutions for congenital afibrinogenemia. Our expertise spans diagnostic development, therapeutic development, precision disease modeling, and rigorous preclinical evaluation. We are committed to driving innovation in novel therapeutics, including the development of fibrinogen biological preparations.
FGA Gene Targeted Mutation Model: Our research team has successfully established a novel zebrafish model of congenital afibrinogenemia using advanced gene editing technology to introduce targeted mutations in the zebrafish FGA gene. This model faithfully replicates the clinical features and manifestations of congenital nonfibrinogenemia.
Protheragen takes great pride in providing integrated preclinical services for congenital afibrinogenemia. These services cover all aspects of drug research including pharmacodynamics (PD), pharmacokinetics (PK), and safety. We observe the highest quality and ethics in the execution of all our research services to make certain the outcome is dependable. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
Myeloproliferative Disorders (MPDs)
Bone Marrow Failure Syndromes (BMFS)