ORPHA:158775
Smoldering systemic mastocytosis
Publications
357
82.3th percentile
Trials
4
Interventional, condition-specific
Researchers
1,344
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, slowly form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with , hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0015557
- UMLS:C3897042
- NCIT:C115460
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
357 matched papers (257 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
4 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
357
357 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
357 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
257 in the last 10 years · high confidence · 82.3th percentile (publications denominator)
Phrase hits: 357 · MeSH hits: 0
Who's working on it?
1,344
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01
- 02Hermine O9 papers · 2025
French Reference Center for Mastocytosis (CEREMAST), ohermine@gmail.com.
Papers in Europe PMC - 03Niedoszytko M9 papers · 2025
Department of Allergology, Medical University of Gdańsk, Gdańsk, Poland.
Papers in Europe PMC - 04Valent P9 papers · 2025
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Medical University of Vienna, Vienna, Austria. peter.valent@meduniwien.ac.at.
Papers in Europe PMC - 05Akin C8 papers · 2026
Division of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, MI, USA.
Papers in Europe PMC - 06Sperr WR7 papers · 2025
Department of Internal Medicine I, Division of Hematology and Hemostaseology, Ludwig Boltzmann Institute for Hematology and Oncology, Medical University of Vienna, Vienna, Austria.
Papers in Europe PMC - 07Bonadonna P6 papers · 2025
Multidisciplinary Mastocytosis Outpatient Clinic, Azienda Ospedaliera Universitaria Integrata of Verona
Papers in Europe PMC - 08Reiter A6 papers · 2025
Hämatologie und Onkologie, III. Medizinische Klinik, Universitätsmedizin Mannheim, Universität Heidelberg, Mannheim, Germany.
Papers in Europe PMC - 09Siebenhaar F6 papers · 2026
Institute of Allergology, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Papers in Europe PMC - 10Triggiani M6 papers · 2025
Division of Allergy and Clinical Immunology, University of Salerno, 84081 Baronissi, Italy.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 33 trials are registered for systemic mastocytosis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
high confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT04910685·RECRUITING·(HARBOR) Study to Evaluate Efficacy and Safety of BLU-263 Versus Placebo in Patients With Indolent Systemic Mastocytosis
Conditions: Indolent Systemic Mastocytosis · Smoldering Systemic Mastocytosis·Matched via name phrase
Broader category: systemic mastocytosis
33
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04996875·RECRUITING·(Apex) Bezuclastinib in Patients With Advanced Systemic Mastocytosis
Conditions: Advanced Systemic Mastocytosis (AdvSM) · SM With an Associated Hematologic Neoplasm (SM-AHN) · Mast Cell Leukemia (MCL) · Aggressive Systemic Mastocytosis (ASM)·Matched via name phrase
- NCT06327685·RECRUITING·Avapritinib With Decitabine in Patients With SM-AHN
Conditions: Systemic Mastocytosis With an Associated Hematologic Neoplasm·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Smoldering systemic mastocytosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Smoldering systemic mastocytosis"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 4 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"systemic mastocytosis"
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T08:08:04.294Z