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| ID | DOID:4329 |
| Name | Erdheim-Chester disease |
| Definition | A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. |
| Source | DiseaseOntology.org |
| Alt Ids | |
| Path | disease disease of anatomical entity immune system disease lymphatic system disease histiocytosis non-Langerhans-cell histiocytosis Erdheim-Chester disease |
| Molecular Profile | Therapy | Indication/Tumor Type | Response Type | Profile Response Detail |
|---|---|---|---|---|
| MAP2K1 Q56P | Cobimetinib | Erdheim-Chester disease | predicted - sensitive | detail... |
| BRAF V600E | Vemurafenib | Erdheim-Chester disease | sensitive | detail... |
| BRAF V600E | Dabrafenib | Erdheim-Chester disease | sensitive | detail... |
| ALK fusion | Crizotinib | Erdheim-Chester disease | sensitive | detail... |
| PIK3CA mutant | Sirolimus | Erdheim-Chester disease | sensitive | detail... |
| PIK3CA mutant | Everolimus | Erdheim-Chester disease | sensitive | detail... |
| RET fusion | Selpercatinib | Erdheim-Chester disease | sensitive | detail... |
| NRAS mutant | Cobimetinib | Erdheim-Chester disease | sensitive | detail... |
| MAP2K1 mutant | Cobimetinib | Erdheim-Chester disease | sensitive | detail... |
| PIK3CA mutant | Cobimetinib | Erdheim-Chester disease | sensitive | detail... |
| PIK3CA mutant | Trametinib | Erdheim-Chester disease | sensitive | detail... |
| MAP2K1 mutant | Trametinib | Erdheim-Chester disease | sensitive | detail... |
| NRAS mutant | Trametinib | Erdheim-Chester disease | sensitive | detail... |
| ALK fusion | Alectinib | Erdheim-Chester disease | sensitive | detail... |
| ALK fusion | Brigatinib | Erdheim-Chester disease | sensitive | detail... |
| ALK fusion | Ceritinib | Erdheim-Chester disease | sensitive | detail... |
| ALK fusion | Lorlatinib | Erdheim-Chester disease | sensitive | detail... |
| BRAF fusion | Cobimetinib | Erdheim-Chester disease | predicted - sensitive | detail... |
| BRAF V600X | Vemurafenib | Erdheim-Chester disease | sensitive | detail... |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT04079179 | Phase II | Cobimetinib | Cobimetinib in Refractory Langerhans Cell Histiocytosis (LCH), and Other Histiocytic Disorders (NACHO COBI) | Recruiting | USA | 0 |
| NCT04198818 | Phase Ib/II | HH2710 | A Study to Evaluate the Safety, Tolerability and Pharmacokinetics of HH2710 in Patient With Advanced Tumors | Terminated | USA | 1 |
| NCT06712810 | Phase I | Adrixetinib | Q702 for the Treatment of Patients with Hematologic Malignancies | Recruiting | USA | 0 |