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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, 9 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 Nov 2, 2026, 11:09 PM 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 |
[NCT05768178](https://clinicaltrials.gov/study/NCT05768178) | DETERMINE Trial Treatment Arm 05: Vemurafenib in Combination With Cobimetinib in Adult Patients With BRAF Positive Cancers. | PHASE2 | Cancer Research UK | 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 |
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 Oct 15, 2026
A recent international cohort study investigates the phenotype, treatment options, and prognostic factors in Erdheim-Chester disease. This research provides valuable insights into the disease's characteristics and potential management strategies.
Recent research demonstrates that MEK inhibition leads to significant and lasting responses in patients with Erdheim-Chester disease. This finding could pave the way for new therapeutic strategies targeting this rare condition.
A case series published in PubMed highlights the efficacy of dabrafenib and trametinib in treating BRAF V600E-mutant Erdheim-Chester disease, including cases with CNS involvement. This research contributes to understanding targeted therapies for this rare condition.