Erdheim-Chester disease

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Information
Disease name
Erdheim-Chester disease
Disease ID
DOID:4329
Description
"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." [url:https\://medlineplus.gov/genetics/condition/erdheim-chester-disease/, url:https\://rarediseases.org/rare-diseases/erdheim-chester-disease/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01552434 Active, not recruiting Phase 1 Bevacizumab and Temsirolimus Alone or in Combination With Valproic Acid or Cetuximab in Treating Patients With Advanced or Metastatic Malignancy or Other Benign Disease March 16, 2012 March 31, 2026
NCT05092815 Active, not recruiting Phase 2 The Efficacy and Safety of HLX208 in Adult Langerhans Cell Histiocytosis (LCH) and Erdheim-Chester Disease (ECD) With BRAF V600E Mutation December 6, 2021 October 30, 2024
NCT02608619 Completed Uptake and Biodistribution of 18F-fluorocholine in Histiocytic Disorders by PET Imaging and Biopsy Measurement November 2015 August 2018
NCT06332183 Recruiting GWAS and EWAS in Patients With Erdheim-Chester Disease July 17, 2019 October 1, 2024
NCT03329274 Recruiting Registry for Patients With Erdheim-Chester Disease and Other Histiocytoses October 26, 2017 October 2024
NCT05093335 Recruiting Early Phase 1 In-Human CXCR4 Imaging of Blood Cancers Using [68Ga]-Pentixafor-PET October 1, 2021 October 2025
NCT05768178 Recruiting Phase 2/Phase 3 DETERMINE Trial Treatment Arm 05: Vemurafenib in Combination With Cobimetinib in Adult Patients With BRAF Positive Cancers. March 1, 2023 October 2029
NCT05915208 Recruiting Histiocytic Disorder Follow-up Study September 1, 2022 December 2028
NCT06317246 Recruiting N/A Subtypes and Prognostic Factors in Erdheim-Chester Disease September 15, 2020 December 15, 2024
NCT04079179 Recruiting Phase 2 Cobimetinib in Refractory Langerhans Cell Histiocytosis (LCH), and Other Histiocytic Disorders April 19, 2021 December 2029
NCT01727206 Terminated Phase 2 Pilot Study of Tocilizumab in Patients With Erdheim-Chester Disease November 2012 December 2015
NCT04198818 Terminated Phase 1/Phase 2 A Study to Evaluate the Safety, Tolerability and Pharmacokinetics of HH2710 in Patient With Advanced Tumors January 7, 2020 March 31, 2023
NCT02089724 Unknown status Long-term Outcome After Vemurafenib / BRAF Inhibitors Interruption in Erdheim-chester Disease March 2014 April 2019
NCT03794297 Withdrawn Phase 2 Dabrafenib and Trametinib in Treating Patients With Erdheim Chester Disease With BRAF V600 Mutations January 4, 2019 February 18, 2021
Disase is a (Disease Ontology)
DOID:4330
Cross Reference ID (Disease Ontology)
GARD:6369
Cross Reference ID (Disease Ontology)
ICDO:9749/3
Cross Reference ID (Disease Ontology)
MESH:D031249
Cross Reference ID (Disease Ontology)
NCI:C53972
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:703711007
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0878675
OrphaNumber from OrphaNet (Orphanet)
35687
MeSH unique ID (MeSH (Medical Subject Headings))
D031249