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Erdheim-Chester disease (ECD), a non-Langerhans form of histiocytosis, is a multisystemic disease characterized by various manifestations such as skeletal involvement with bone pain, exophthalmos, diabetes insipidus, renal impairment and central nervous system (CNS) and/or cardiovascular involvement.
Biomarker and diagnostic research for Erdheim-Chester disease has been reported in the published literature.
1 FDA-approved treatment is available for Erdheim-Chester disease, including VEMURAFENIB (ZELBORAF, approved 2011).
Brand Name | Generic Name | Mechanism | Approved | Market Status |
|---|---|---|---|---|
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
14 clinical trials registered, 8 recruiting. Interventions under study include drug therapy, other interventions, and procedural interventions. Pipeline includes 4 PHASE2, 2 PHASE1, 1 EARLY_PHASE1. Research is primarily sponsored by academic and government institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT06712810](https://clinicaltrials.gov/study/NCT06712810) |
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:00 AM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Erdheim-Chester disease
VEMURAFENIB |
— |
2011 |
Available |
Gene therapy approaches for Erdheim-Chester disease have been reported in the published literature.
14 trials found
Q702 for the Treatment of Patients With Hematologic Malignancies |
PHASE1 |
Mayo Clinic |
RECRUITING |
[NCT07454343](https://clinicaltrials.gov/study/NCT07454343) | ECD-Score: a Study on Erdheim-Chester Disease | — | Meyer Children's Hospital IRCCS | RECRUITING |
[NCT07440290](https://clinicaltrials.gov/study/NCT07440290) | DETERMINE Trial Treatment Arm 07: Dabrafenib in Combination With Trametinib in Adult, Paediatric and Teenage/Young Adult Patients With BRAF V600 Mutation-Positive Cancers. | PHASE2 | Cancer Research UK | RECRUITING |
[NCT05915208](https://clinicaltrials.gov/study/NCT05915208) | Histiocytic Disorder Follow-up Study | — | University of Alabama at Birmingham | RECRUITING |
[NCT05093335](https://clinicaltrials.gov/study/NCT05093335) | In-Human CXCR4 Imaging of Hematologic and Solid Tumors Using [68Ga]-Pentixafor-PET | EARLY_PHASE1 | Memorial Sloan Kettering Cancer Center | RECRUITING |
217 publications have been identified in PubMed for Erdheim-Chester disease. Kisho has analyzed 58 by research type. Research spans Review / Meta-Analysis (40%), Case Report / Case Series (24%), and Epidemiology / Natural History (10%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 23 | 40% |
Patient case studies | 14 | 24% |
Disease patterns and progression | 6 | 10% |
Other research | 5 | 9% |
Clinical study results | 3 | 5% |
Laboratory research | 3 | 5% |
New treatment approaches | 3 | 5% |
Testing and diagnosis research | 1 | 2% |
Khaddour K (2026). [PMID: 30571050](https://pubmed.ncbi.nlm.nih.gov/30571050/). *Unknown Journal*. [Gene Therapy / Novel Therapeutics]
Rech KL (2026). [PMID: 41651609](https://pubmed.ncbi.nlm.nih.gov/41651609/). *Surg Pathol Clin*. [Review / Meta-Analysis]
Moore KE (2026). [PMID: 41582886](https://pubmed.ncbi.nlm.nih.gov/41582886/). *Mod Rheumatol Case Rep*. [Case Report / Case Series]
Gurugubelli S (2026). [PMID: 41728905](https://pubmed.ncbi.nlm.nih.gov/41728905/). *J Clin Rheumatol*. [Review / Meta-Analysis]
Tufanoğlu FH (2026). [PMID: 40747783](https://pubmed.ncbi.nlm.nih.gov/40747783/). *Turk J Haematol*. [Case Report / Case Series]
Pegoraro F (2026). [PMID: 41204885](https://pubmed.ncbi.nlm.nih.gov/41204885/). *Am J Hematol*. [Other]
Soares Costa T (2026). [PMID: 41841069](https://pubmed.ncbi.nlm.nih.gov/41841069/). *Cureus*. [Case Report / Case Series]
Diamond EL (2026). [PMID: 41135521](https://pubmed.ncbi.nlm.nih.gov/41135521/). *Cancer Cell*. [Basic Science / Preclinical]
Pimentel LFC (2026). [PMID: 40586893](https://pubmed.ncbi.nlm.nih.gov/40586893/). *Abdom Radiol (NY)*. [Review / Meta-Analysis]
Modesto Dos Santos V (2025). [PMID: 40526868](https://pubmed.ncbi.nlm.nih.gov/40526868/). *Rev Med Chil*. [Review / Meta-Analysis]
AI-curated news mentioning Erdheim-Chester disease
Updated Aug 31, 2026
A recent study highlights a rare presentation of primary breast involvement in Erdheim-Chester disease, expanding the understanding of this condition. This discovery may influence future diagnostic and treatment approaches for affected patients.
A recent case report highlights Erdheim-Chester disease presenting as optic neuritis, contributing to the understanding of this rare condition. The literature review provides insights into clinical manifestations and management strategies.
A recent study highlights the diagnostic utility of PET imaging and bone marrow biopsy in differentiating Erdheim-Chester disease from suspected brain malignancies. This research underscores the importance of accurate diagnostic techniques in rare diseases.