ORPHA:517
Acute myelomonocytic leukemia
Also known as: AML M4 · AMMoL
Publications
3,516
88.7th percentile
Trials
73
Interventional, condition-specific
Researchers
1,363
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare acute myeloid leukemia disorder characterized by increased blast cells (myeloblasts, monoblast, and/or promonoblasts), representing more than 20% of the total bone marrow (BM) or peripheral blood differential counts, with 20-80% of BM cells being of monocytic lineage. Clinical presentation is the result of bone marrow involvement and extramedullary infiltration by the leukemic cells and includes asthenia, pallor, fever, dizziness, respiratory symptoms, easy bruising, bleeding disorders, and neurological deficits. Gingival hyperplasia, organomegaly, especially , and lymphadenopathy may also be associated.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018871
- UMLS:C0023479
- NCIT:C7463
Additional Mondo synonyms (7)
AMML · acute M4 myeloid leukaemia · acute M4 myeloid leukemia · acute myelomonocytic leukaemia · acute myelomonocytic leukaemia (FAB type M4) · acute myelomonocytic leukemia · acute myelomonocytic leukemia (FAB type M4)
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
3,516 matched papers (1,298 in last 10 years) Source
- Phenotype characterisedPresent
9 HPO annotations (e.g. Increased total leukocyte count; Anemia; Thrombocytopenia) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
73 matched on ClinicalTrials.gov
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)
9
Associated phenotypes · MONDO:0018871
- Increased total leukocyte count
- Anemia
- Thrombocytopenia
- Pallor
- Weight loss
Showing 5 of 9 — 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_0018871
- DOXORUBICIN HYDROCHLORIDE·approval
CTD chemicals (MyDisease.info)
4 associated chemicals · 23 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Cytarabine · therapeutic
- Chloramphenicol · marker/mechanism
- Colchicine · marker/mechanism
- Sulfinpyrazone · marker/mechanism
Pathways: Lysine degradation; Vascular smooth muscle contraction; Tight junction; Transcriptional misregulation in cancer; Developmental Biology; Signal Transduction; Signaling by Rho GTPases; RHO GTPase Effectors
Literature
Is anyone studying this?
3,516
3,516 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.
3,516 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).
1,298 in the last 10 years · medium confidence · 88.7th percentile (publications denominator)
Phrase hits: 3,516 · MeSH hits: 0
Who's working on it?
1,363
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.
- 01Li J5 papers · 2026
Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China.
Papers in Europe PMC - 02Li X5 papers · 2026
Shaanxi Key Laboratory of High-Orbits-Electron Materials and Protection Technology for Aerospace, School of Advanced Materials and Nanotechnology, Xidian University, Xi'an, Shaanxi 710126, China.
Papers in Europe PMC - 03Liu Y5 papers · 2026
Medical Center of Hematology, Xinqiao Hospital, Army Medical University, Chongqing 400037, People's Republic of China.
Papers in Europe PMC - 04Zhang J4 papers · 2025
The Second Department of General Surgery, the Fourth Hospital of Hebei Medical University, Hebei, Shijiazhuang, China.
Papers in Europe PMC - 05Zhang X4 papers · 2025
Key Laboratory of Basic and New Drug Research of Tradinonal Chinese Medicine, Shaanxi Universily of Chinese Medicine, Xianyang, Shaanxi 712046, China.
Papers in Europe PMC - 06
- 07Li F3 papers · 2026
Department of Hematology and Oncology, Children's Hospital Affiliated to Shandong University, Jinan, Shandong, 250022, China.
Papers in Europe PMC - 08Li H3 papers · 2025
Center for Biomedical-photonics and Molecular Imaging, Advanced Diagnostic-Therapy Technology and Equipment Key Laboratory of Higher Education Institutions in Shaanxi Province, School of Life Science and Technology, Xidian University, Xi'an, Shaanxi 710126, China; Engineering Research Center of Molecular and Neuro Imaging, Ministry of Education & Xi'an Key Laboratory of Intelligent Sensing and Regulation of Trans-Scale Life Information, School of Life Science and Technology, Xidian University, Xi'an, Shaanxi 710126, China.
Papers in Europe PMC - 09Li Y3 papers · 2022
Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Key Laboratory of Hematology of Nanjing Medical University.
Papers in Europe PMC - 10Liu Z3 papers · 2026
Department of Hematology, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. liuzhenfang@gxmu.edu.cn.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
73
interventional trials for this specific condition
73 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 11 September 2026
73 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.1th percentile).
medium confidence · 98.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
73 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
3 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.
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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · dropped 0 · fetched 2026-07-29
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 (10)
- isrctn·ISRCTN16805365·No longer recruiting·Chart review assessing venetoclax treatment outcomes for AML - AML Real World Evidence Initiative (ARC)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN50290131·No longer recruiting·Comparing interventions for the prevention of graft-versus-host disease after unrelated donor stem cell transplantation
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN55111436·No longer recruiting·A double-blind randomised trial to compare oral azacitidine (CC-486) with placebo in adults with acute myeloid leukaemia and myelodysplasia who are undergoing allogeneic stem cell transplantation
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN92868457·No longer recruiting·Phase II study of combination therapy with 5-AZAcytidine, Valproic acid, and All-Trans Retinoic Acid in patients with myelodysplastic syndromes and other myeloid malignancies who cannot receive intensive chemotherapy
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN62207270·No longer recruiting·Intensive compared with nonintensive chemotherapy in treating older patients with acute myeloid leukaemia or myelodysplastic syndrome
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN18332222·No longer recruiting·A phase II multicentre study to assess the tolerability and efficacy of the addition of bevacizumab to standard induction therapy in Acute Myeloid Leukaemia and high risk myelodysplastic syndrome above 60 years
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN70542454·No longer recruiting·Reduced intensity chemotherapy given with and without imatinib mesylate in patients >/= 60 years considered unfit for standard chemotherapy with previously untreated acute myeloid leukemia (AML) and refractory anemia with excess of blasts (RAEB), refractory anemia with excess blasts in transformation (RAEB-T): a randomized phase II study
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN77039377·No longer recruiting·Randomised induction and post induction therapy in older patients (greater than or equal to 61 years of age) with Acute Myelocytic Leukaemia (AML) and Refractory Anaemia with Excess of Blasts (RAEB, RAEB-t)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN38648181·No longer recruiting·Randomised induction and post-induction therapy in adult patients (less than or equal to 60 years of age) with acute myelocytic leukaemia (AML) or refractory anaemia with excess of blasts (RAEB, RAEB-t) with IPSS score greater than or equal to 1.5
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11571826·No longer recruiting·An open label randomised controlled study in elderly subjects with previously untreated acute myelogenous leukaemia, comparing treatment groups randomised to receive daunorubicin and cytarabine or daunorubicin, cytarabine and PSC-833
skipped — LLM skipped (--skip-llm)
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 Acute myelomonocytic leukemia — check Associations / patient organisations on that page.
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.
"Acute myelomonocytic leukemia" OR "AML M4" OR "AMMoL" OR "acute M4 myeloid leukaemia" OR "acute M4 myeloid leukemia" OR "acute myelomonocytic leukaemia" OR "acute myelomonocytic leukaemia (FAB type M4)" OR "acute myelomonocytic leukemia (FAB type M4)"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute myelomonocytic leukemia" OR "AML M4" OR "AMMoL" OR "acute M4 myeloid leukaemia" OR "acute M4 myeloid leukemia" OR "acute myelomonocytic leukaemia" OR "acute myelomonocytic leukaemia (FAB type M4)" OR "acute myelomonocytic leukemia (FAB type M4)"
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: 73 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AMML
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 2026-07-26T14:08:29.080Z