Hereditary Angioedema (HAE)
Hereditary Angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling (angioedema) in various body parts. Despite its rarity, HAE can significantly impact the quality of life of affected individuals and requires specialized management and therapy approaches. Our company has a solid foundation in biotechnology, operations, and related fields, as well as access to the latest industry technologies and supporting laboratory platforms. This enables us to meet your drug and therapy development needs in the field of HAE therapy.
Introduction to HAE
HAE is a rare genetic condition resulting from mutations in the C1 esterase inhibitor gene (C1-INH) or its deficiency. With an autosomal dominant inheritance pattern, it impacts approximately 1 in 50,000 individuals. C1-INH regulates various pathways, such as fibrinolysis, coagulation, contact, and complement systems. It manifests as recurrent episodes of swelling or abdominal discomfort, often accompanied by a distinctive non-pruritic rash.
Fig.1 The normal functions of the C1 esterase inhibitor protein. (Sinnathamby, E.S., et al., 2023)Pathogenesis of HAE
The underlying mechanism of HAE is primarily attributed to dysregulations within the complement system, particularly concerning the functionality of the C1 esterase inhibitor (C1-INH). In individuals with HAE, mutations or deficiencies in the C1-INH gene lead to inadequate regulation of various pathways, including the classical and lectin pathways of complement activation. This results in the uncontrolled production of bradykinin, a potent vasodilator, leading to increased vascular permeability and tissue swelling, characteristic of HAE episodes. Additionally, dysregulation of coagulation and fibrinolytic pathways may contribute to the pathogenesis of HAE.
Diagnostics Development of HAE
The diagnostic advancement for HAE employs a comprehensive strategy, integrating evaluation, laboratory assays, and genetic profiling. For instance, laboratory tests often measure plasma levels and activity of C1 esterase inhibitor (C1-INH), while genetic analysis confirms mutations in the C1-INH gene. This comprehensive diagnostic strategy ensures accurate identification of HAE and guides appropriate therapy plans.
Therapy Development of HAE
The development of small molecule drug therapy for HAE entails the exploration, screening, and refinement of compounds that selectively target crucial pathological pathways. For instance, bradykinin receptor antagonists like icatibant and kallikrein inhibitors such as ecallantide have shown promise in mitigating symptoms associated with HAE attacks.
Exploring gene therapies for HAE entails the investigation, manipulation, and delivery of genetic material to rectify the underlying genetic anomalies associated with the condition. For instance, investigational therapies such as adeno-associated virus (AAV) vectors delivering functional copies of the deficient gene, such as SERPING1, have shown promise in studies for treating HAE.
Our Services
Our company is dedicated to working closely with clients and striving to provide tailored product development solutions for HAE-related products. We focus on identifying the best project pathways and strategies to meet individual needs and goals effectively.
Platforms of HAE Therapy Development
In our company, we understand that seamless collaboration is essential for successful drug development. That's why our dedicated teams are tailored to seamlessly integrate with your own, providing unparalleled support and cooperation at every process step.
Animal Models of HAE
We have established expertise in developing and utilizing relevant animal models that closely mimic the disease characteristics and response to therapy. These models enable us to evaluate the safety and efficacy of potential therapies.
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| Our organization specializes in delivering top-notch services for creating NON-GEMs, providing diverse model choices customized to meet specific research needs related to HAE. | ||
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| Genetically Engineered Models | ||
| Our expertise in genetic engineering techniques, such as CRISPR/Cas9 technology, allows us to generate accurate and reliable models that recapitulate the genetic alterations observed in human HAE. | ||
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| Optional Species | Mice, Rats, Others | |
In addition to these models, our comprehensive services encompass other models that target specific signaling pathways and molecular targets.
If our services spark your interest, we're just a message away. Contact us at your convenience, and let's explore how we can tailor our solutions to align with your unique needs and objectives perfectly.
References
- Sinnathamby, E.S., et al., "Hereditary Angioedema: Diagnosis, Clinical Implications, and Pathophysiology." Adv Ther (2023). 40(3): p. 814-827.
- Sharma, J., et al., "Pathophysiology of Hereditary Angioedema (HAE) Beyond the SERPING1 Gene." Clin Rev Allergy Immunol (2021). 60(3): p. 305-315.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.