RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:98850

Aggressive systemic mastocytosis

medium confidenceDisorder

Publications

568

79.5th percentile

Trials

7

Interventional, condition-specific

Researchers

1,283

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

ASM · aggressive systemic mastocytosis (morphologic abnormality)

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    568 matched papers (359 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Pruritus; Hepatosplenomegaly; Weight loss) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    7 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)

39

Associated phenotypes · MONDO:0020333

  • Pruritus
  • Hepatosplenomegaly
  • Weight loss
  • Increased total leukocyte count
  • Diarrhea

Showing 5 of 39 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0020333

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

568

568 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

568 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

359 in the last 10 years · medium confidence · 79.5th percentile (publications denominator)

Phrase hits: 568 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,283

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.

  1. 01
    Hermine O11 papers · 2025

    French Reference Center for Mastocytosis, Paris, France; Department of Hematology, Necker Hospital, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.

    Papers in Europe PMC
  2. 02
    Reiter A10 papers · 2025

    III. Medizinische Klinik, Universitätsmedizin Mannheim, 68167 Mannheim, Germany. andreas.reiter@uum.de.

    Papers in Europe PMC
  3. 03
    Valent P10 papers · 2025

    Department of Internal Medicine I, Division of Hematology & Hemostaseology, Medical University of Vienna, 1090 Vienna, Austria. peter.valent@meduniwien.ac.at.

    Papers in Europe PMC
  4. 04
    Arock M7 papers · 2025

    Department of Hematological Biology, Pitié-Salpêtrière Hospital, Pierre et Marie Curie University (UPMC), 75005 Paris, France. arock@ens-cachan.fr.

    Papers in Europe PMC
  5. 05
    Schwaab J7 papers · 2025

    Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, 68167 Mannheim, Germany.

    Papers in Europe PMC
  6. 06
    Akin C6 papers · 2025

    Division of Allergy and Clinical Immunology, University of Michigan, Ann Arbor, MI 48106, USA. cemakin@umich.edu.

    Papers in Europe PMC
  7. 07
    Dubreuil P6 papers · 2025

    Centre de Recherche en Cancérologie de Marseille (CRCM) (Signaling, Hematopoiesis, and Mechanism of Oncogenesis), Inserm, U1068, Institut Paoli-Calmettes, Aix-Marseille University, UM105, Centre national de la recherche scientifique (CNRS), Unité mixte de recherche (UMR) 7258, Marseille, France.

    Papers in Europe PMC
  8. 08
    George TI6 papers · 2026

    ARUP Laboratories, University of Utah, Salt Lake City, UT, USA.

    Papers in Europe PMC
  9. 09
    Gotlib J6 papers · 2025

    Stanford University School of Medicine/Stanford Cancer Institute, Stanford, CA.

    Papers in Europe PMC
  10. 10
    Hofmann WK6 papers · 2025

    Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, 68167 Mannheim, Germany.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 30 trials are registered for systemic mastocytosis, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

medium confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

7 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: systemic mastocytosis

30

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

Observational and natural-history studies

2 observational studies match 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.

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Aggressive systemic mastocytosis — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

"Aggressive systemic mastocytosis" OR "aggressive systemic mastocytosis (morphologic abnormality)"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Aggressive systemic mastocytosis" OR "aggressive systemic mastocytosis (morphologic abnormality)"

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: 7 interventional · 2 observational · 1 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

Synonyms dropped by stoplist: ASM

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T05:35:22.625Z