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ORPHA:98823

Chronic myelomonocytic leukemia

medium confidenceDisorder

Also known as: CMML

Publications

7,913

97.5th percentile

Trials

300

Interventional, condition-specific

Researchers

1,571

Distinct authors in sample

Gene link

—

Readiness

2/6

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.”

2/6 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 characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

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=5449) is 41.

7,913 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

4,833 in the last 10 years · medium confidence · 97.5th 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 27 July 2026

300 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; 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

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 2026-07-26

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