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Erdheim-Chester Disease (ECD)

Erdheim-Chester disease (ECD) is a rare blood disorder that occurs when your body makes too many white blood cells called histiocytes. ECD can affect multiple organs and cause various or even no symptoms, making diagnosis tricky. Specialized drug and therapy development services are essential to enhance and expedite ECD research. Our company is well-equipped to address your drug and therapy development requirements in ECD therapy.

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). The disease was first described in 1930, and recent data suggests that over 1,500 cases have been reported worldwide, although this number may be an underestimation due to previous diagnostic challenges. Erdheim-Chester Disease primarily affects adults, typically manifesting in the fifth to seventh decade of life, with a slight male predominance.

Key features of ECD.Fig.1 Key features of ECD. (Starkebaum, G. and Hendrie, 2020)

Pathogenesis of Erdheim-Chester Disease

The pathogenesis of Erdheim-Chester Disease primarily involves the activation of the mitogen-activated protein kinase (MAPK) pathway due to genetic mutations, most notably the BRAFV600E mutation. These mutations lead to the uncontrolled proliferation of histiocytes, which are immune cells that can infiltrate and accumulate in various tissues and organs. This infiltration results in the characteristic manifestations of Erdheim-Chester Disease. The inflammatory environment created by the mutated histiocytes is also significant in the progression of the disease, contributing to the systemic symptoms observed in Erdheim-Chester Disease individuals​.

Genetic complexity among systemic mastocytosis subtypes.Fig. 2 Genetic complexity among systemic mastocytosis subtypes. (Starkebaum, G. and Hendrie, 2020)

Diagnostics Development of Erdheim-Chester Disease

The diagnosis of Erdheim-Chester Disease is complex and typically requires a combination of radiological and pathological assessments. Imaging studies. Histopathological examination remains essential. A biopsy of lesional tissue not only confirms the presence of characteristic foamy histiocytes but allows for genetic testing to identify mutations in the BRAF gene or other parts of the MAPK pathway, which are present in many cases. This genetic insight is critical not just for diagnosis but also for guiding targeted therapies, such as inhibitors of the MAPK pathway.

Therapy Development of Erdheim-Chester Disease

Small Molecule Drugs

The introduction of small molecule kinase inhibitors has revolutionized the therapy of ECD. For individuals with the BRAF V600E mutation, BRAF inhibitors like vemurafenib have been particularly effective. Additionally, MEK inhibitors such as cobimetinib and trametinib are used, especially in cases where BRAF inhibitors are not suitable or in combination therapies to target the MAPK pathway more comprehensively.

Monoclonal Antibodies

These are used to target specific pathways or molecules involved in ECD pathogenesis. For instance, monoclonal antibodies against interleukin-6 (IL-6) and other cytokines could help reduce the inflammatory processes that are a hallmark of ECD. This approach is based on the high levels of inflammatory cytokines found in ECD individuals and could potentially alleviate symptoms related to systemic inflammation.

Cell Therapies

While more commonly associated with cancers, cell therapy approaches are being explored for their potential in treating histiocytic disorders like ECD. One area of interest is the use of engineered T cells, although direct applications in ECD are still at the research phase and not yet a standard therapy option.

Gene Therapies

Gene therapy involves correcting the underlying genetic abnormalities.This could potentially be achieved by delivering a correct copy of a gene or using gene-editing technologies to directly correct mutations in the individual's DNA. The discovery of frequent mutations in the MAPK pathway in ECD provides a potential target for such therapies in the future.

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

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.

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.
Optional Models
  • Xenograft Models
Genetically Engineered Models
Our expertise in genetic engineering techniques, such as CRISPR/Cas9 technology, allows us to generate accurate and reliable models that recapitulate the genetic alterations observed in human Erdheim-Chester Disease.
Optional Models
  • BRAF V600E Transgenic Mice Model
  • Mice with MAPK Pathway Mutations
Optional Species Mice, Zebrafish, Non-human primates, Others

In addition to these models, our comprehensive services encompass other models that target specific signaling pathways and molecular targets.

If our services align with your goals, please contact us for more details.


  • 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.

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