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

ORPHA:98292 ↗Gene KIT (D816V mutation in >95%)Prevalence 1-5 per 10,000 (Orphanet)Onset All agesAcquired / somatic mutation

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Recruiting trials

Fetching live from ClinicalTrials.gov. This condition is not yet in our weekly snapshot; live results only.

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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

MastocytosisAbnormal mast cell morphologyFlushingUrticaria pigmentosaIncreased serum tryptaseBone painAbdominal painAnaphylaxis

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.

Approved: Cromolyn Sodium (Aerocrom)Approved: Midostaurin (Rydapt)
Phase 2/3Rupatadine
Phase 2/3Hydroxychloroquine
Phase 2Cromolyn
Phase 2Palmidrol (Palmidrol component of sci-110 palmitoylethanolamide)
Phase 2Masitinib (Kinavet)

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).