ORPHA:98833

Acute myeloblastic leukemia without maturation

low confidenceDisorder

Also known as: AML M1 · Acute myeloblastic leukemia M1

Publications

1,635

Trials

Interventional, condition-specific

Researchers

1,418

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially .

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

MONDO:0005224
UMLS:C0026998
NCIT:C3249

Additional Mondo synonyms (36)

AML without maturation · FAB M1 · M1 acute granulocytic leukaemia · M1 acute granulocytic leukaemia without maturation · M1 acute granulocytic leukemia · M1 acute granulocytic leukemia without maturation · M1 acute myeloblastic leukaemia · M1 acute myeloblastic leukaemia without maturation · M1 acute myeloblastic leukemia · M1 acute myeloblastic leukemia without maturation · M1 acute myelocytic leukaemia · M1 acute myelocytic leukaemia without maturation · M1 acute myelocytic leukemia · M1 acute myelocytic leukemia without maturation · M1 acute myelogenous leukaemia · M1 acute myelogenous leukaemia without maturation · M1 acute myelogenous leukemia · M1 acute myelogenous leukemia without maturation · M1 acute myeloid leukaemia · M1 acute myeloid leukaemia without maturation · M1 acute myeloid leukemia · M1 acute myeloid leukemia without maturation · acute M1 myeloid leukaemia · acute M1 myeloid leukemia · acute granulocytic leukaemia without maturation · acute granulocytic leukemia without maturation · acute myeloblastic leukaemia M1 · acute myeloblastic leukemia M1 · acute myelocytic leukaemia without maturation · acute myelocytic leukemia without maturation · acute myelogenous leukaemia without maturation · acute myelogenous leukemia without maturation · acute myeloid leukaemia without maturation · acute myeloid leukaemia without maturation (FAB M1) · acute myeloid leukemia without maturation · acute myeloid leukemia without maturation (FAB M1)

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
1,635 matched papers (731 in last 10 years) Source
Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
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
74 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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 2026-07-27

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

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,635

1,635 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.

1,635 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).

731 in the last 10 years · low confidence

Phrase hits: 1,635 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,418

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
Bacher U7 papers · 2026
University Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, Bern, Switzerland.
Papers in Europe PMC
02
Pabst T7 papers · 2026
Department of Medical Oncology, Inselspital, Bern University Hospital, Bern, Switzerland.
Papers in Europe PMC
03
Seipel K6 papers · 2026
Department for Biomedical Research (DBMR), University of Bern, 2008 Bern, Switzerland.
Papers in Europe PMC
04
Li Y5 papers · 2026
Department of Pediatrics, the First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China.
Papers in Europe PMC
05
Liu Y4 papers · 2026
Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy Medical Sciences, Beijing, China.
Papers in Europe PMC
06
Wang W4 papers · 2025
Institute of Hematology, School of Medicine, Jinan University, Guangzhou, China.
Papers in Europe PMC
07
Zhao Y4 papers · 2025
The Key Laboratory of Geriatrics, Beijing Hospital, National Center of Gerontology, Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Dongcheng District, Beijing, China.
Papers in Europe PMC
08
Chen J3 papers · 2025
Department of Hematology, First Affiliated Hospital, Jinan University, Guangzhou, China.
Papers in Europe PMC
09
Huang Y3 papers · 2025
Department of Hematology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
Papers in Europe PMC
10
Kronig MN3 papers · 2026
Department of Medical Oncology, Inselspital, Bern University Hospital, Bern, Switzerland.
Papers in Europe PMC

Clinical research

Is a treatment being tested?

interventional trials for this specific condition

74 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 9 September 2026

74 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).

low confidence · 98.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

74 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.

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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 2 · uncertain 0 · dropped 2 · fetched 2026-07-27

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).

Broader / parent-category hits (2)

isrctn·ISRCTN14430213·No longer recruiting·CAR T cells to fight acute myeloid leukaemia
Parent category — Both providers judged relevant only to a broader parent category.
isrctn·ISRCTN12434060·No longer recruiting·An international randomised clinical trial of therapeutic interventions with the potential to improve outcome in adults with acute myeloid leukaemia and high-risk myelodysplasia undergoing allogeneic stem cell transplantation
Parent category — Both providers judged relevant only to a broader parent category.

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 myeloblastic leukemia without maturation — 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.

"Acute myeloblastic leukemia without maturation" OR "AML M1" OR "Acute myeloblastic leukemia M1" OR "AML without maturation" OR "FAB M1" OR "M1 acute granulocytic leukaemia" OR "M1 acute granulocytic leukaemia without maturation" OR "M1 acute granulocytic leukemia" OR "M1 acute granulocytic leukemia without maturation" OR "M1 acute myeloblastic leukaemia" OR "M1 acute myeloblastic leukaemia without maturation" OR "M1 acute myeloblastic leukemia" OR "M1 acute myeloblastic leukemia without maturation" OR "M1 acute myelocytic leukaemia" OR "M1 acute myelocytic leukaemia without maturation" OR "M1 acute myelocytic leukemia" OR "M1 acute myelocytic leukemia without maturation" OR "M1 acute myelogenous leukaemia" OR "M1 acute myelogenous leukaemia without maturation" OR "M1 acute myelogenous leukemia" OR "M1 acute myelogenous leukemia without maturation" OR "M1 acute myeloid leukaemia" OR "M1 acute myeloid leukaemia without maturation" OR "M1 acute myeloid leukemia" OR "M1 acute myeloid leukemia without maturation" OR "acute M1 myeloid leukaemia" OR "acute M1 myeloid leukemia" OR "acute granulocytic leukaemia without maturation" OR "acute granulocytic leukemia without maturation" OR "acute myeloblastic leukaemia M1" OR "acute myelocytic leukaemia without maturation" OR "acute myelocytic leukemia without maturation" OR "acute myelogenous leukaemia without maturation" OR "acute myelogenous leukemia without maturation" OR "acute myeloid leukaemia without maturation" OR "acute myeloid leukaemia without maturation (FAB M1)" OR "acute myeloid leukemia without maturation" OR "acute myeloid leukemia without maturation (FAB M1)"

Run this search on Europe PMC

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

"Acute myeloblastic leukemia without maturation" OR "AML M1" OR "Acute myeloblastic leukemia M1" OR "AML without maturation" OR "FAB M1" OR "M1 acute granulocytic leukaemia" OR "M1 acute granulocytic leukaemia without maturation" OR "M1 acute granulocytic leukemia" OR "M1 acute granulocytic leukemia without maturation" OR "M1 acute myeloblastic leukaemia" OR "M1 acute myeloblastic leukaemia without maturation" OR "M1 acute myeloblastic leukemia" OR "M1 acute myeloblastic leukemia without maturation" OR "M1 acute myelocytic leukaemia" OR "M1 acute myelocytic leukaemia without maturation" OR "M1 acute myelocytic leukemia" OR "M1 acute myelocytic leukemia without maturation" OR "M1 acute myelogenous leukaemia" OR "M1 acute myelogenous leukaemia without maturation" OR "M1 acute myelogenous leukemia" OR "M1 acute myelogenous leukemia without maturation" OR "M1 acute myeloid leukaemia" OR "M1 acute myeloid leukaemia without maturation" OR "M1 acute myeloid leukemia" OR "M1 acute myeloid leukemia without maturation" OR "acute M1 myeloid leukaemia" OR "acute M1 myeloid leukemia" OR "acute granulocytic leukaemia without maturation" OR "acute granulocytic leukemia without maturation" OR "acute myeloblastic leukaemia M1" OR "acute myelocytic leukaemia without maturation" OR "acute myelocytic leukemia without maturation" OR "acute myelogenous leukaemia without maturation" OR "acute myelogenous leukemia without maturation" OR "acute myeloid leukaemia without maturation" OR "acute myeloid leukaemia without maturation (FAB M1)" OR "acute myeloid leukemia without maturation" OR "acute myeloid leukemia without maturation (FAB M1)"

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: 74 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

Confidence reasoning

Preferred label is multi-word and distinctive
No synonyms dropped by stoplist
No label/synonym collisions with other diseases in this corpus
Publication count (1635) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T02:16:11.937Z