Hypertrophic Cardiomyopathy (HCM)
Hypertrophic cardiomyopathy (HCM) is a genetic heart condition that may lead to life-threatening conditions like sudden cardiac death. At Protheragen, we focus on offering complete research services suited for the investigation of uncommon cardiovascular disorders, including HCM. We provide comprehensive solutions in drug development and discovery, which help our clients simplify their business processes.
Overview of Hypertrophic Cardiomyopathy (HCM)
Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder that is marked by heterogeneous cellular architecture alongside significant pathological and biological entities. It is universal in its distribution, with multifaceted expressions and natural progression both phenotypically and genotypically. It exhibits is often asymmetric hypertrophy of the left ventricle, with enlarged myocytes in disarray and coexisting abnormal function which is not explainable by loading conditions. About sixty percent of individuals develop obstruction to outflow from the left ventricle.
Fig.1 HCM arises from the interaction of genetic, post-transcriptional, and environmental factors. (Maron, B. A., et al., 2022)Pathogenesis of Hypertrophic Cardiomyopathy (HCM)
Hypertrophic cardiomyopathy (HCM) is primarily passed down through families in an autosomal dominant fashion, and it is associated with mutations and changes in the DNA sequence of 11 or more genes that code for the proteins of the myocardial sarcomere. These mutations principally involve the genes for the beta-myosin heavy chain and myosin-binding protein C. It is possible that any one of these proteins, or a combination of them, may be absent or deficient and thereby disable the function of the sarcomere leading to impaired myocardial contractility.
Fig.2 Key aspects of HCM. (Mosqueira, D., et al., 2019)Therapeutics Development for Hypertrophic Cardiomyopathy (HCM)
| Drug Names | Mechanism of Action | Targets | NCT Number | Research Phase |
|---|---|---|---|---|
| HRS-1893 | It operates with a unique mechanism that prevents excess myocardial contraction. | / | NCT06816251 | Phase II |
| Trametinib tablet | Suppressing the MEK1/2 pathway which diminishes cardiac hypertrophy and enhances cardiac function. | MEK | NCT06555237 | Phase II |
| Mavacamten | A small molecule acts upon cardiac myosin ATPase which directly alters the sarcomere hypercontractility associated with HCM. | Cardiac myosin | NCT06551129 | N/A |
| Sotagliflozin | Diminishing cardiac workload while improving metabolic efficiency and antifibrotic effects, as well as cardioprotective effects. | SGLT1, SGLT2 | NCT06481891 | Phase III |
| Aficamten | It operates by lowering the number of actin-myosin cross bridges that are active in every heartbeat. | Cardiac myosin | NCT06412666 | Phase II/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.
Our Services
The wide-ranging services of our company include developing diagnostics and therapeutics and creating disease models. We acknowledge that the difficulties concerning rare diseases are different and seek to address those challenges with progressive, innovative solutions. Our clients are given first priority, so bespoke services designed around clients' specific research requirements are provided.
Therapeutic Development Services
Diverse Platforms
Animal Model Development for HCM
Animal models assist in developing new drugs and provide an understanding of the hereditary components of HCM. Our firm focuses on developing specialized animal models for HCM research, as well as providing tailored services including model-appropriate selection and development, phenotyping, and extended study monitoring according to the provided research objectives.
Genetically Engineered Animal Model
The construction of genetically modified animal HCM models requires the application of gene modification techniques, such as gene editing and transgenesis, to introduce certain mutations.
Optional models:
- Myh6 mutation model
- Mybpc3 knockout model
- Tnnt2 mutation model
- Tpm1 mutation model
- Tnni3 mutation model
- Other models
Apart from our disease model development services, Protheragen also offers a full range of preclinical services which includes pharmacokinetics and drug safety evaluations. Leveraging our expertise in modern technologies, we seek to reduce the time it takes to convert research into viable therapies. If our services are of interest to you, we welcome you to reach out for additional details.
References
- Maron, Bradley A et al. "What Causes Hypertrophic Cardiomyopathy?" The American journal of cardiology 179 (2022): 74-82.
- Mosqueira, Diogo et al. "Modeling Hypertrophic Cardiomyopathy: Mechanistic Insights and Pharmacological Intervention." Trends in molecular medicine 25.9 (2019): 775-790.
For research use only, not for clinical use.