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ORPHA:98823

Chronic myelomonocytic leukemia

medium confidenceDisorder

Also known as: CMML

Publications

7,913

94.5th percentile

Trials

300

Interventional, condition-specific

Researchers

1,571

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare myelodysplastic/myeloproliferative neoplasm characterized by a spectrum of clinical, hematological, and morphological features, ranging from predominantly myelodysplastic to mainly myeloproliferative in nature, with blood monocytosis (> 1G/L, constituting > 10% of circulating leukocytes). Is it often associated with blood cytopenia and/or ''proliferative features'' (increased leukocyte counts, ), with marrow and risk of progression to acute myeloid leukemia (AML).

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 (3)

chronic myelomonocytic leukaemia (CMML) · chronic myelomonocytic leukemia · chronic myelomonocytic leukemia (CMML)

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

    7,913 matched papers (4,833 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Juvenile myelomonocytic leukemia) Source

  4. Animal modelPresent

    11 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    300 matched on ClinicalTrials.gov (58 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)

1

Associated phenotypes · MONDO:0020311

  • Juvenile myelomonocytic leukemia

Animal models (Monarch / Alliance)

11

Model associations linked to this Mondo ID

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

118

Drugs / clinical candidates · MONDO_0020311

CTD chemicals (MyDisease.info)

8 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Amifostine · therapeutic
  • Ciprofloxacin · therapeutic
  • Cytarabine · therapeutic
  • Decitabine · therapeutic
  • Dexamethasone · therapeutic
  • Mercaptopurine · therapeutic
  • Pentoxifylline · therapeutic
  • Vincristine · therapeutic

MyDisease.info · MONDO:0020311

Literature

Is anyone studying this?

7,913

7,913 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.

7,913 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).

4,833 in the last 10 years · medium confidence · 94.5th percentile (publications denominator)

Phrase hits: 7,913 · MeSH hits: 6

Open Europe PMC search

Who's working on it?

1,571

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
    Tefferi A12 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  2. 02
    Gangat N11 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  3. 03
    Fathima S10 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  4. 04
    Geissler K9 papers · 2026

    Medical School, Sigmund Freud University, Sigmund Freud Platz 3, 1020, Vienna, Austria. geissler.klaus@gmx.at.

    Papers in Europe PMC
  5. 05
    Mangaonkar AA9 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  6. 06
    Padron E9 papers · 2026

    Department of Malignant Hematology, Moffitt Cancer Center and Research Institute, Tampa, FL, USA. eric.padron@moffitt.org.

    Papers in Europe PMC
  7. 07
    Patnaik MM9 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, MN, USA. patnaik.mrinal@mayo.edu.

    Papers in Europe PMC
  8. 08
    Wang Y9 papers · 2026

    Department of Hematology, The Second Hospital of Hebei Medical University, Hebei Province Blood Disease Primary Laboratory, Shijiazhuang 050000, Hebei Province, China.E-mail: xiaoyan_wy741122@163.com.

    Papers in Europe PMC
  9. 09
    Liu Y7 papers · 2026

    Department of Pathology, Northwestern University Feinberg School of Medicine & Northwestern Memorial Hospital, Chicago, IL 60611, USA.

    Papers in Europe PMC
  10. 10
    Pardanani A7 papers · 2026

    Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

300

interventional trials for this specific condition

300 interventional trials matched this specific condition name; 58 currently recruiting in our sample.

Data as of 11 September 2026

300 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.6th percentile).

medium confidence · 99.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

17 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 25 · after dedupe 25 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 24 · 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 (24)

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 Chronic myelomonocytic leukemia — 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.

"Chronic myelomonocytic leukemia" OR "chronic myelomonocytic leukaemia (CMML)" OR "chronic myelomonocytic leukemia (CMML)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Leukemia, Myelomonocytic, Chronic

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

"Chronic myelomonocytic leukemia" OR "chronic myelomonocytic leukaemia (CMML)" OR "chronic myelomonocytic leukemia (CMML)" OR "Leukemia, Myelomonocytic, Chronic"

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

Study-type breakdown: 300 interventional · 17 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: CMML

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 2026-07-27T05:27:11.412Z