Immune
Systemic Mastocytosis
Also known as SM, mast cell disease, aggressive systemic mastocytosis, ASM
Systemic mastocytosis is characterized by clonal accumulation of neoplastic mast cells in bone marrow and other organs, driven in the vast majority of cases by a KIT D816V somatic mutation. The spectrum ranges from indolent SM (longest surv
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About Systemic Mastocytosis
Systemic mastocytosis is characterized by clonal accumulation of neoplastic mast cells in bone marrow and other organs, driven in the vast majority of cases by a KIT D816V somatic mutation. The spectrum ranges from indolent SM (longest survival) to aggressive SM and mast cell leukemia. Mast cell mediator release causes anaphylaxis, urticaria, osteoporosis, and gastrointestinal symptoms. Avapritinib (Ayvakit), a KIT D816V inhibitor, transformed treatment for advanced forms.
Common clinical features
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Treatments being studied
2 approved treatments and 5 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.
Before you apply
Things trial teams commonly ask about for Systemic Mastocytosis. Not eligibility rules; those are set by each study.
- SM subtype (indolent, smoldering, aggressive, or mast cell leukemia) determines trial eligibility
- KIT D816V mutation confirmation in bone marrow biopsy is required for KIT-targeted trials
- Total tryptase level and bone marrow mast cell burden are standard enrollment measurements
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).