Erdheim-Chester Disease (ECD)
Erdheim Chester disease (ECD) is a category of blood disorder in histiocytosis, a condition where the nervous system makes an abnormal number of specific white blood cells known as histiocytes. As the disease can manifest in multiple organs leading to various symptoms or even lack of symptoms altogether, the diagnosis can be complicated. Specialized services in drug and therapy development are important for studying ECD since it is in a nascent stage. Our company has the capacity to meet your needs in drug and therapy development in ECD.
Introduction to Erdheim-Chester Disease
Erdheim-Chester Disease is a rare non-Langerhans cell histiocytosis characterized by the infiltration of various organs and tissues by lipid-laden macrophages (foamy histiocytes). First documented in 1930, the latest information indicates that there are over 1500 reported cases globally, and many of which likely remain unaccounted for because of diagnostic issues. The disease generally occurs amongst adults between the ages of fifty to seventy, and is more common in men.
Fig.1 Key features of ECD. (Starkebaum, G. and Hendrie, 2020)Pathogenesis of Erdheim-Chester Disease
The pathophysiology of Erdheim-Chester Disease centers around the mitogen-activated protein kinase (MAPK) and its pathways that get triggered by genetic mutations such as that seen in the BRAFV600E position. These modifications result in the imposing expansion of an immune cell, histiocytes which can undergo isotropic concentrations within tissues and organs. Such infiltration is the essence of Erdheim-Chester disease. Further, the region of inflammation brought about by mutated histiocytes is paramount. Histiocytes alone are sufficient to bring about inflammation that aids in disease progression and worsens the systemic symptoms of the disease. That is why the self inflicted inflammation is of grave concern.
Fig. 2 Genetic complexity among systemic mastocytosis subtypes. (Starkebaum, G. and Hendrie, 2020)Diagnostics Development of Erdheim-Chester Disease
T Examining a patient suffering from Erdheim-Chester Disease requires imaging techniques alongside a dermato-pathology assessment. These Imaging reports are to be substantiated by the micro pathology level of that tissue and a confirmatory push is to be given by providing a biopsy. A lesion tissue biopsy not only verifies the abundance of the disease specific foamy histiocytes but also enables one to conduct genetic investigation for BRAF mutations, alongside many other cases in the MAPK pathway. It is indeed sad that, this hapless condition does not have any cure. The only thing that can be done is to modify the strategy for treatment - targeted therapy. In this case, it is MAPK pathway inhibitors.
Therapy Development of Erdheim-Chester Disease
The treatment of Erdheim-Chester Disease has changed significantly with the addition of small molecule kinase inhibitors. For patients bearing the BRAF V600E mutation, BRAF inhibitors, particularly vemurafenib, have proven useful. Furthermore, MEK Inhibitors like cobimetinib and trametinib are also utilized, particularly in cases where there is poor response to BRAF inhibitors, or in multi drug regimens for better control of the MAPK pathway.
These are directed toward some loci or molecules which are relevant to the development of ECD. For example, monoclonal antibodies to interleukin-6 (IL-6) and other cytokines may help in decreasing inflammatory processes which are common in ECD patients. This is grounded on the premise of the presence of high inflammatory cytokines in ECD individuals and can possibly help alleviate the signs of systemic inflammation.
As cell therapy might suggest, it is more associated with treating cancers, but it is being developed in the context of treatment for histiocytic disorders like ECD as well. One of the promising areas includes the application of engineered T cells, though the practical use of those in ECD is still a topic of investigation and not a routine treatment.
Our company strongly believes in the power of collaborations. We work hand in hand with our clients to develop and implement creative innovative Erdheim-Chester Disease therapy solutions and provide the necessary assistance all the way.
Our Services
Our company adopts a partnership-driven approach. We collaborate closely with clients to craft tailored, innovative Erdheim-Chester Disease therapy strategies and ensure robust support throughout the process.
Platforms of Erdheim-Chester Disease Therapy Development
Animal Models of Erdheim-Chester Disease
Our team is experienced in creating and working with animal models that accurately capture the disease features and therapeutic response. These models assess the safety and efficacy of potential therapies.
| Non-Genetically Engineering Models | ||
| We provide diverse model choices customized to meet specific research needs related to Erdheim-Chester Disease. These models allow researchers to simulate and study the complex biological processes associated with Erdheim-Chester Disease. | ||
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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 Erdheim-Chester Disease. | ||
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| Optional Species | Mice, Zebrafish, Non-human primates, Others | |
Our service portfolio also includes other models that test certain signaling pathways and other molecular targets.
If our services align with your goals, please contact us for more details.
References
- Starkebaum, G. and Hendrie, P., "Erdheim-Chester disease." Best Pract Res Clin Rheumatol, (2020). 34(4): p. 101510.
- Goyal, G., et al., "Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era." Blood, (2020). 135(22): p. 1929-1945.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.