Rare Cardiomyopathies
Rare cardiomyopathies are a collection of uncommon heart muscle disorders that can disrupt the heart's structure and function, potentially leading to diminished pumping efficiency and various complications. Our company is at the forefront of rare cardiomyopathy drug development services and is committed to providing integrated solutions for researchers and scientists in this specialized field.
Overview of Rare Cardiomyopathies
Cardiomyopathies are characterized by structural and functional abnormalities of the heart muscle, occurring in the absence of typical causes such as coronary artery disease, hypertension, valvular heart disease, or congenital heart defects that could account for these myocardial irregularities. These conditions can significantly impact the myocardium, and the heart's muscular tissue, leading to heart failure, arrhythmias, and other cardiac problems.
Fig.1 MRI image shows a severe DCM phenotype in a 12-year-old girl. (Tsatsopoulou, A., et al., 2023)Classification of Rare Cardiomyopathies
The development of rare cardiomyopathies is intricate and varied, often stemming from a mix of genetic mutations, metabolic issues, toxin exposure, inflammation, and more. Depending on the specific underlying causes, cardiomyopathy can be categorized into primary types (genetic, mixed, or acquired) and secondary forms, leading to a range of phenotypes like hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC).
- Contributing factors for DCM include genetic predispositions, viral infections, and more.
- HCM, the most prevalent inherited form, is caused by mutations in several sarcomere protein-encoding genes and is inherited in an autosomal dominant manner.
- RCM, the rarest cardiomyopathy, can result from various inherited or acquired risk factors.
- ARVC is a genetically influenced condition, primarily associated with mutations in desmosome genes.
Fig.2 HCM therapy for myosin inhibitors. (Lairez, O., et al., 2024)Therapeutics Development for Rare Cardiomyopathies
| Diseases | Drug Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Arrhythmogenic cardiomyopathy | SB216763 | An inhibitor of GSK3β that activates the Wnt/β-catenin pathway | GSK3β and Wnt/β-catenin | Preclinical research |
| Pentoxifylline | Exhibiting anti-inflammatory and anti-fibrotic effects by regulating NFκB activity | TNF-α | Clinical trials | |
| Transthyretin Amyloid Cardiomyopathy (ATTR-CM) | Tafamidis | Disrupting TTR tetramers to counteract fibrillation | TTR | Approved |
| PRX004 | Monoclonal antibodies targeting and eliminating misfolded TTR protein variants | TTR | Phase I | |
| NTLA-2001 | Utilizing gene editing technology to target TTR | TTR | Phase I | |
| Eosinophilic Myocarditis | Mabolizumab | Monoclonal antibody targeting IL-5 | IL-5 | Preclinical research |
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
By utilizing advanced technologies and innovative approaches, our company provides a comprehensive one-stop service that covers every phase of therapy development for rare cardiomyopathies. We offer services in diagnosis, therapeutic, and disease model development to enhance your research efforts and facilitate the creation of innovative therapeutics.
Types of Rare Cardiomyopathies
- Arrhythmogenic Cardiomyopathy (ACM)
- Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
- Hypertrophic Cardiomyopathy (HCM)
- Inflammatory Cardiomyopathy
- Inherited Thoracic Aortopathies
- Left Ventricular Noncompaction (LVNC)
- LEOPARD Syndrome
- Naxos Disease
- Cardiac Sarcoidosis
- Dilated Cardiomyopathy (DCM)
- Eosinophilic Myocarditis
- Noonan Syndrome
- Primary Light Chain Amyloidosis (pAL)
- Restrictive Cardiomyopathy (RCM)
- Takotsubo Syndrome
- Transthyretin Amyloid Cardiomyopathy (ATTR-CM)
Therapeutic and Animal Model Development Services
- Chemical-induced Model
- Diet-induced Model
- Genetically Engineered Model
- Immunogenicity Model
- Surgical Model Development
- Transplant Model Development
Drawing on cutting-edge research methodologies and a team of scientific experts, we are pioneering in the realm of rare cardiomyopathy research. We offer thorough preclinical research services, including pharmacokinetic studies and safety assessments, to assist in drug development. If you would like to learn more about our services, please don't hesitate to reach out to us for further information.
References
- Ciarambino, Tiziana et al. "Cardiomyopathies: An Overview." International journal of molecular sciences 22.14 (2021): 7722.
- Tsatsopoulou, Adalena et al. "Cardiomyopathies in children: An overview." Hellenic journal of cardiology: HJC = Hellenike kardiologike epitheorese 72 (2023): 43-56.
- Lairez, Olivier et al. "Towards etiological treatments in cardiomyopathies." Presse medicale 53.1 (2024): 104223.
For research use only, not for clinical use.