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Systemic mastocytosis (SM) comprises a heterogeneous group of rare acquired and chronic hematological malignancies that are related to an abnormal proliferation of mast cells in tissue, including bone marrow, with or without skin involvement.
Biomarker and diagnostic research for systemic mastocytosis has been reported in the published literature.
Estimated prevalence: 1-5 in 10,000 (Uncommon).
10 clinical trials registered, 5 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 5 PHASE2, 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.
NCT ID | Title | Phase | Sponsor | Status |
|---|---|---|---|---|
[NCT07255638](https://clinicaltrials.gov/study/NCT07255638) |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 4:02 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
A Non-Interventional Study in Participants With Indolent Systemic Mastocytosis (ISM) in Germany
— |
Blueprint Medicines Corporation |
RECRUITING |
[NCT04910685](https://clinicaltrials.gov/study/NCT04910685) | (HARBOR) Study to Evaluate Efficacy and Safety of BLU-263 Versus Placebo in Patients With Indolent Systemic Mastocytosis | PHASE2 | Blueprint Medicines Corporation | RECRUITING |
[NCT07142473](https://clinicaltrials.gov/study/NCT07142473) | Mastocytosis From Pediatric Age to Adulthood: Local Registry of Cutaneous and Systemic Mastocytosis | — | Fondazione IRCCS Policlinico San Matteo di Pavia | RECRUITING |
[NCT07264959](https://clinicaltrials.gov/study/NCT07264959) | An Observational Study in Participants With Indolent Systemic Mastocytosis (ISM) | — | Blueprint Medicines Corporation | RECRUITING |
[NCT07562542](https://clinicaltrials.gov/study/NCT07562542) | Peripheral Blood KIT-D816V Mutation in Adult Systemic Mastocytosis | — | The First Affiliated Hospital of Soochow University | RECRUITING |
243 publications have been identified in PubMed for systemic mastocytosis. Research spans Case Report / Case Series (24%), Review / Meta-Analysis (23%), and Epidemiology / Natural History (12%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 50 | 24% |
Research summaries | 49 | 23% |
Disease patterns and progression | 26 | 12% |
Clinical study results | 25 | 12% |
Testing and diagnosis research | 22 | 11% |
Laboratory research | 22 | 11% |
Other research | 8 | 4% |
New treatment approaches | 7 | 3% |
Kim C (2026). [PMID: 40908547](https://pubmed.ncbi.nlm.nih.gov/40908547/). *Mol Cancer Ther*. [Diagnostic / Biomarker]
Fazio M (2026). [PMID: 41677670](https://pubmed.ncbi.nlm.nih.gov/41677670/). *Cells*. [Clinical Trial Publication]
Frost M (2026). [PMID: 41935968](https://pubmed.ncbi.nlm.nih.gov/41935968/). *Pediatr Blood Cancer*. [Other]
Barrientos RY (2026). [PMID: 42130988](https://pubmed.ncbi.nlm.nih.gov/42130988/). *J Orthop Case Rep*. [Case Report / Case Series]
Estublier B (2026). [PMID: 41379048](https://pubmed.ncbi.nlm.nih.gov/41379048/). *JACC Case Rep*. [Case Report / Case Series]
Hoermann G (2026). [PMID: 40846032](https://pubmed.ncbi.nlm.nih.gov/40846032/). *The journal of allergy and clinical immunology. In practice*. [Basic Science / Preclinical]
NoorSaeed SM (2026). [PMID: 41597149](https://pubmed.ncbi.nlm.nih.gov/41597149/). *Children (Basel)*. [Epidemiology / Natural History]
Gülen T (2026). [PMID: 42221506](https://pubmed.ncbi.nlm.nih.gov/42221506/). *Immunotargets Ther*. [Review / Meta-Analysis]
Melício A (2026). [PMID: 41809956](https://pubmed.ncbi.nlm.nih.gov/41809956/). *Eur J Case Rep Intern Med*. [Diagnostic / Biomarker]
Hartmann K (2026). [PMID: 41399928](https://pubmed.ncbi.nlm.nih.gov/41399928/). *The Journal of allergy and clinical immunology*. [Epidemiology / Natural History]