ORPHA:329469
Acute megakaryoblastic leukemia in children without Down syndrome
Also known as: Acute megakaryoblastic leukemia in children without trisomy 21 · Non-DS-AMKL
How rare: How common this is has not been clearly measured.
Is anyone studying this?
178
178 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=183) is 38.
178 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
105 in the last 10 years · high confidence · 68.3th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 71 trials are registered for acute megakaryoblastic leukemia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
71
trials for acute megakaryoblastic leukemia, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
1,170
Distinct author names in 178 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Crispino JD19 papers · 2021
Division of Hematology/Oncology, Northwestern University, Chicago, IL 60611, USA.
Papers in Europe PMC - 02Reinhardt D17 papers · 2023
Clinic for Pediatrics III, University Hospital Essen, Essen, 45122, Germany.
Papers in Europe PMC - 03Klusmann JH15 papers · 2023
Department of Pediatric Hematology and Oncology, Medical School Hannover, Hannover, Germany.
Papers in Europe PMC - 04Taub JW12 papers · 2019
Division of Pediatric Hematology/Oncology, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, MI 48201, USA.
Papers in Europe PMC - 05Ge Y10 papers · 2015
Experimental and Clinical Therapeutics Program, Barbara Ann Karmanos Cancer Institute, Division of Pediatric Hematology/Oncology, Children's Hospital of Michigan, Detroit, MI 48201, USA.
Papers in Europe PMC - 06Li Z10 papers · 2025
Division of Hematology/Oncology, Children's Hospital Boston, Harvard Stem Cell Institute, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Stem Cell Institute, Harvard Medical School, Boston, MA 02115, USA.
Papers in Europe PMC - 07Heckl D8 papers · 2026
Pediatric Hematology and Oncology, Hannover Medical School, Hannover, 30625, Germany.
Papers in Europe PMC - 08Masetti R8 papers · 2022
Pediatric Hematology-Oncology Unit, Department of Medical and Surgical Sciences DIMEC, University of Bologna, Bologna, Italy.
Papers in Europe PMC - 09Matherly LH7 papers · 2013Papers in Europe PMC
- 10Pession A7 papers · 2022
"Giorgio Prodi" Interdepartmental Cancer Research Centre, University of Bologna, Bologna, Italy.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
71 interventional trials matched acute megakaryoblastic leukemia, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
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 below but are not added to the query string.
"Acute megakaryoblastic leukemia in children without Down syndrome" OR "Acute megakaryoblastic leukemia in children without trisomy 21" OR "Non-DS-AMKL"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acute megakaryoblastic leukemia in children without Down syndrome" OR "Acute megakaryoblastic leukemia in children without trisomy 21" OR "Non-DS-AMKL"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C5679860
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