Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease, a group of inherited disorders affecting the peripheral nerves, is characterized by progressive muscle weakness and atrophy in the limbs. At the forefront of rare disease diagnostics and therapeutics development, our company offers a comprehensive suite of services aimed at developing cutting-edge therapies to address its effects.
Overview of Charcot-Marie-Tooth Disease
With an incidence of 10 to 40 cases per 100,000 individuals, Charcot-Marie-Tooth disease is characterized by progressive muscle weakness and atrophy, primarily in the feet, lower legs, hands, and forearms. Charcot-Marie-Tooth disease is categorized into types such as CMT1, CMT2, and CMTX, each associated with distinct genetic mutations, some representative genes related to the pathogenesis of Charcot-Marie-Tooth disease.
Fig.1 Relative frequencies of CMT-related genes. (Cavalcanti, E. B. U., et al., 2023)Pathogenesis of Charcot-Marie-Tooth Disease
The pathogenesis of Charcot-Marie-Tooth disease involves mutations in genes crucial for the normal functioning of peripheral nerves. These genetic aberrations can disrupt the structure and function of the myelin sheath and axons, leading to impaired nerve signal transmission and subsequent muscle weakness and wasting.
Fig.2 Overview of molecular pathways in normal myelinating SCs (left) and in demyelinating / dysmyelinating CMT SCs (right). (Hertzog, N., and Jacob, C., 2023) Therapeutics Development of Charcot-Marie-Tooth Disease
| Types | Drug Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Small Molecule Drug Therapy | Ascorbic acid | Inhibits cAMP pathway | ROS | Phase III trials |
| PXT3003 | Inhibits the proliferation of SCs and downregulates the synthesis of PMP22 | PMP22 | Phase III trials | |
| A438079 | P2X7 receptor modulators | P2X7 receptor | Phase II trials | |
| Ulapristal | Inhibits myelin-related genes expression in SCs | Progesterone receptor | Phase II trials | |
| Gene Therapy | Genomic HGF cDNA hybrid | Stimulates SC repair and regeneration | HGF | Phase I/II trials |
| AAV1 delivered NT3 | Expresses neurotrophic factor | NT3 | Phase I/II trials | |
| siRNA (P2RX7) | Reduces abnormal Ca2+ influx into SC | P2RX7 | Preclinical research |
Our Services
Our company stands out in the field of rare diseases and is committed to offering a comprehensive range of services to our customers. With a platform focusing on animal models and therapeutic development, our company aims to accelerate progress in understanding Charcot-Marie-Tooth disease and related disorders.
Therapy Development Platforms
Animal Models of Charcot-Marie-Tooth Disease
The animal models serve as invaluable tools for elucidating disease mechanisms, testing potential therapies, and advancing scientific knowledge in rare diseases. By offering a diverse array of animal models engineered to reflect specific genetic mutations and disease subtypes, our company facilitates groundbreaking research.
Specific mutations related to different subtypes of Charcot-Marie-Tooth disease, or targeted deletion or inactivation of specific genes, are introduced into animals to produce disease phenotypes.
Optional Models: Trpv4tm1Rck model; Lmnatm1Stw model; Pmp22Tr model, etc.
Why Choose Us
In our unwavering dedication to addressing the complexities of rare diseases, including Charcot-Marie-Tooth disease, our company provides a spectrum of services ranging from pharmacokinetic studies to biosafety evaluations.
If you are interested in learning more about our services and how we can support your research endeavors, please do not hesitate to reach out to us for further information.
References
- Okamoto, Yuji, and Hiroshi Takashima. "The Current State of Charcot-Marie-Tooth Disease Treatment." Genes 14.7 (2023): 1391.
- Hertzog, Nadège, and Claire Jacob. "Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease." Neural regeneration research 18.9 (2023): 1931-1939.
- Cavalcanti, Eduardo Boiteux Uchôa et al. "Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives." Arquivos de neuro-psiquiatria 81.10 (2023): 913-921.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.