aggressive systemic mastocytosis

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Information
Disease name
aggressive systemic mastocytosis
Disease ID
DOID:4798
Description
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
KIT 4 54,657,913 54,740,770 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03580655 Active, not recruiting Phase 2 (PATHFINDER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis November 21, 2018 January 31, 2026
NCT05219266 Available Managed Access Programs for PKC412, Midostaurin
NCT01807598 Completed Phase 2 Brentuximab Vedotin in Treating Patients With Advanced Systemic Mastocytosis or Mast Cell Leukemia September 2013 September 2017
NCT02561988 Completed Phase 1 (EXPLORER) Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies March 10, 2016 January 19, 2023
NCT04695431 Completed Retrospective Study Assessing the Effect of Avapritinib Versus Best Available Therapy in Patients With AdvSM December 2, 2020 October 4, 2021
NCT02415608 Terminated Phase 2 Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis March 2015 June 14, 2017
Disase is a (Disease Ontology)
DOID:349
Cross Reference ID (Disease Ontology)
ICD10CM:C96.21
Cross Reference ID (Disease Ontology)
MESH:D034721
Cross Reference ID (Disease Ontology)
NCI:C9285
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:716655008
Cross Reference ID (Disease Ontology)
UMLS_CUI:C1112486
Exact Synonym (Disease Ontology)
ASM
Exact Synonym (Disease Ontology)
Lymphadenopathic mastocytosis with eosinophilia
OrphaNumber from OrphaNet (Orphanet)
98850