RecruitingPhase 2 / Phase 3NCT07440290
Neurological
Erdheim-Chester Disease
Also known as ECD, non-Langerhans cell histiocytosis, polyostotic sclerosing histiocytosis, BRAF-mutant histiocytosis
Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis in which clonal histiocytes infiltrate multiple organs. The majority of patients carry the BRAF V600E somatic mutation.
ORPHA:35687 ↗Gene BRAF (V600E in ~57%)Gene MAP2K1Gene NRASGene PIK3CAPrevalence 1-9 per 1,000,000 (Orphanet)Onset AdultSomatic clonal mutation (neoplastic, MAP kinase pathway)
10
studies recruiting now
as of 7 Sept 2026
26
studies registered in total
as of 7 Sept 2026
4
countries with a recruiting site
as of 7 Sept 2026
6 Mar 2026
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT03990428
Supportive Care Needs of Caregivers of People With Erdheim-Chester Disease and Other Histiocytic Diseases
RecruitingNCT05915208
Histiocytic Disorder Follow-up Study
RecruitingNCT07454343
ECD-Score: a Study on Erdheim-Chester Disease
RecruitingEarly phase 1NCT05093335
In-Human CXCR4 Imaging of Hematologic and Solid Tumors Using [68Ga]-Pentixafor-PET
Showing the 5 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
See all 10 recruiting studiesWhere recruiting studies are running
Countries with at least one recruiting site among the studies above, 7 Sept 2026. Tap a country to search trials there.
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About Erdheim-Chester Disease
Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytosis in which clonal histiocytes infiltrate multiple organs. The majority of patients carry the BRAF V600E somatic mutation. Common manifestations include bilateral symmetric osteosclerosis of long bones, retroperitoneal fibrosis, periaortic sheathing, cardiac involvement, and CNS involvement (diabetes insipidus, cerebellar ataxia, exophthalmos). Vemurafenib (Zelboraf) and cobimetinib are approved/used off-label for BRAF-mutant ECD.
Common clinical features
Bone pain (long bone osteosclerosis)Diabetes insipidusExophthalmosCerebellar ataxiaRetroperitoneal fibrosisPeriaortic infiltrationSkin xanthomas
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
3 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Phase 2Tocilizumab (Actemra roactemra)
Phase 2Trametinib Dimethyl Sulfoxide (Mekinist)
Phase 2Dabrafenib Mesylate (Finlee)
Before you apply
Things trial teams commonly ask about for Erdheim-Chester Disease. Not eligibility rules; those are set by each study.
- BRAF V600E mutation testing on tissue biopsy (bone marrow, lesion) is required for BRAF inhibitor trial eligibility
- For BRAF-wild-type ECD, MAPK pathway mutation analysis (MAP2K1, ARAF, NRAS) should be performed — alternative targeted therapies exist
- Whole-body FDG-PET/CT and MRI are standard staging and monitoring tools required at baseline
- Prior BRAF inhibitor therapy history and duration of response must be documented for resistance and combination therapy trials
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).