Hereditary Angioedema (HAE)
Hereditary Angioedema (HAE) is an uncommon genetic disorder that is caused by recurrent swelling (angioedema) occurring in several body parts. Even though it is rare, HAE can considerably decrease the quality of life of the persons affected, thus requiring special management and therapy approaches. Our company has a strong background in biotechnology, operations, and other related fields, and is equipped with relevant emerging technologies and supporting laboratory infrastructure. Therefore, we are capable of satisfying your requirements related to drug and therapy development in case of HAE therapy.
Introduction to HAE
HAE is a rare genetic disorder that is due to mutations or a deficiency in the C1 esterase inhibitor gene (C1-INH). It has an autosomal dominant inheritance, therefore it affects about 1 in 50,000 people. C1-INH is responsible for regulating a number of basic biological processes including fibrinolysis, coagulation, contact system, and complement system. It presents as a series of swollen and painful attacks to the abdomen with a unique non itchy rash.
Fig.1 The normal functions of the C1 esterase inhibitor protein. (Sinnathamby, E.S., et al., 2023)Pathogenesis of HAE
The pathogenesis of HAE is attributed to a particular disorder in the functioning of the C1 esterase inhibitor (C1-INH) within the complement system. Patients with this condition tend to possess mutations or deficiencies within the C1 -INH gene, which leads to inadequate suppression and/or regulation of different biological pathways, such as the classical and lectin pathways of complement activation. Subsequently, an unregulated production of bradykinin, a highly potent vasodilator occurs with greater tissue swelling and vascular hyperpermeability, which is a hallmark of HAE episodes. Furthermore, the alteration of the equilibrium between coagulation and fibrinolytic pathways may be an additional factor in the pathogenesis of HAE.
Diagnostics Development of HAE
For the diagnosis, HAE genetic testing and family studies are necessary to determine possible affected genes. The urine of patients with HAE shows enhanced levels of C1 esterase inhibitor (C1-INH) alongside an expression of mutant alleles in the C1-INH gene, which are linked with the disorder. Thus, the disease has been established alongside the consultations for guide diagnosis for HAE.
Therapy Development of HAE
Therapeutic strategies using small molecule drugs to treat HAE involve the design, tracking and design of compounds that difficulties select key important pathological pathways. For instance, sympathetic bradykinin receptor antagonists like icatibant and echinodestin Kallikrein inhibitors such as ecallantide helped some patients with the HAE sympathize and cope with them in HAE related attacks.
Examining Gene therapies for HAE will include extracting or synthesizing and creating vectors to correct the disease-causing genetic abnormalities associated with it. For example, clinical studies utilizing adeno-associated virus (AAV) vectors that substitute a deficient gene like SERPING1 suggest that these investigational therapies may be useful in treating HAE.
Our Services
We have developed skills in creating animal models which closely represent the pathology and therapeutic response of the disease as well as its treatment. These models allow us to test the proposed therapies for safety and effectiveness.
Successful drug development requires collaboration, and at our company, it does not pose a problem. Our clients are confident and assured with boundless collaboration with our exceptional tailored team that will integrate with the client's teams at all levels and every single working step providing unmatched aid and support.
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, 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 | |
Along with these models, we offer a full range of services including other models which focus on particular signaling 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.