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ORPHA:158061

Macrophage activation syndrome

low confidenceDisorder

Publications

8,196

Trials

12

Interventional, condition-specific

Researchers

1,285

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare hemophagocytic syndrome characterized by excessive activation and proliferation of macrophages and T cells occurring in the context of a variety of diseases, including infections, neoplasms, rheumatic disorders, and leading to sudden onset of persistent fever, lymphadenopathy, and . Complications include profound depression of one or more blood cell lines with coagulopathy and pancytopenia, and impaired liver and renal function. Bone marrow examination reveals numerous well differentiated macrophages actively phagocytosing hematopoietic elements.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

MAS · reactive hemophagocytic lymphohistiocytosis

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.”

4/6 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

    8,196 matched papers (6,968 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Anemia; Elevated erythrocyte sedimentation rate; Abnormality of tumor necrosis factor secretion) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. dusquetide Source

  6. Interventional trialPresent

    12 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)

29

Associated phenotypes · MONDO:0015545

  • Anemia
  • Elevated erythrocyte sedimentation rate
  • Abnormality of tumor necrosis factor secretion
  • Hemophagocytosis
  • Increased circulating interleukin 6 concentration

Showing 5 of 29 — 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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA dusquetideMacrophage Activation Syndrome · 2016-08-10 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

7

Drugs / clinical candidates · MONDO_0015545

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,196

8,196 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

8,196 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).

6,968 in the last 10 years · low confidence

Phrase hits: 8,196 · MeSH hits: 206

Open Europe PMC search

Who's working on it?

1,285

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
    De Benedetti F6 papers · 2026

    Division of Rheumatology, ERN-RITA Center, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy.

    Papers in Europe PMC
  2. 02
    Wang X6 papers · 2026

    Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Zhang Y6 papers · 2026

    Department of Rheumatology and Immunology, The Second Affiliated Hospital of Anhui Medical University, Hefei, Anhui, China.

    Papers in Europe PMC
  4. 04
    Bracaglia C5 papers · 2026

    Division of Rheumatology, ERN-RITA Center, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy.

    Papers in Europe PMC
  5. 05
    Ozen S5 papers · 2026

    Department of Pediatrics, Division of Rheumatology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.

    Papers in Europe PMC
  6. 06
    Bilginer Y4 papers · 2026

    Department of Pediatrics, Division of Rheumatology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.

    Papers in Europe PMC
  7. 07
    Bindoli S4 papers · 2026

    Rheumatology Unit, Department of Medicine, University of Padova, Via Giustiniani, 2, 35128, Padua, Italy.

    Papers in Europe PMC
  8. 08
    De Matteis A4 papers · 2026

    Division of Rheumatology, ERN-RITA center, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy.

    Papers in Europe PMC
  9. 09
    Simonini G4 papers · 2026

    Rheumatology Unit, IRCCS Anna Meyer, ERN ReCONNET Center, NEUROFARBA Department, University of Florence, Firenze, Italy.

    Papers in Europe PMC
  10. 10
    Su Y4 papers · 2026

    Department of Rheumatology and Immunology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

12

interventional trials for this specific condition

12 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

12 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 93.2th percentile).

low confidence · 93.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

7 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.

Recruiting or not-yet-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 16 · after dedupe 16 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 16 · 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 (16)

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 Macrophage activation syndrome — 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.

"Macrophage activation syndrome" OR "reactive hemophagocytic lymphohistiocytosis"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Macrophage Activation Syndrome

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

"Macrophage activation syndrome" OR "reactive hemophagocytic lymphohistiocytosis"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 12 interventional · 7 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MAS

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
  • Publication count (8196) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T08:06:36.840Z