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
Clinical Trial Eligibility Tips
What to know before applying to Erdheim-Chester Disease trials.
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
Patient Resources
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