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ORPHA:729

Polycythemia vera

medium confidenceDisorder

Also known as: Acquired primary erythrocytosis · Osler-Vaquez disease · PV · Polycythemia rubra vera · Vaquez disease

Publications

26,117

98.9th percentile

Trials

194

Interventional, condition-specific

Researchers

1,238

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare acquired myeloproliferative neoplasm characterized by an elevated absolute red blood cell mass (RBCM) caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

acquired primary erythrocytosis · polycythaemia rubra vera · polycythemia rubra vera · polycythemia vera · polycythemia vera, somatic

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

    26,117 matched papers (13,171 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

    194 matched on ClinicalTrials.gov (39 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?

26,117

26,117 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.

26,117 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).

13,171 in the last 10 years · medium confidence · 98.9th percentile (publications denominator)

Phrase hits: 26,117 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,238

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
    Vannucchi AM8 papers · 2026

    Department of Experimental and Clinical Medicine, Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), AOU Careggi, University of Florence, Florence, Italy.

    Papers in Europe PMC
  2. 02
    Guglielmelli P7 papers · 2026

    Department of Experimental and Clinical Medicine, Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), AOU Careggi, University of Florence, Florence, Italy.

    Papers in Europe PMC
  3. 03
    Barbui T6 papers · 2026

    FROM - Research Foundation Bergamo Hospital - ETS, Bergamo, Italy. tbarbui@fondazionefrom.it.

    Papers in Europe PMC
  4. 04
    Palandri F6 papers · 2026

    IRCCS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", Bologna, Italy. Electronic address: francesca.palandri@unibo.it.

    Papers in Europe PMC
  5. 05
    Lee SE5 papers · 2026

    Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Republic of Korea.

    Papers in Europe PMC
  6. 06
    Loscocco GG5 papers · 2026

    Department of Experimental and Clinical Medicine, Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), AOU Careggi, University of Florence, Florence, Italy.

    Papers in Europe PMC
  7. 07
    Tefferi A5 papers · 2026

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

    Papers in Europe PMC
  8. 08
    Yacoub A5 papers · 2026

    Hematologic Malignancies and Cellular Therapeutics, University of Kansas Cancer Center, Westwood, KS, USA.

    Papers in Europe PMC
  9. 09
    Benevolo G4 papers · 2026

    Hematology U, Città della Salute e della Scienza, Turin, Italy.

    Papers in Europe PMC
  10. 10
    Branzanti F4 papers · 2026

    Università di Bologna, Bologna, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

194

interventional trials for this specific condition

194 interventional trials matched this specific condition name; 39 currently recruiting in our sample. 15 trials are registered for polycythemia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

194 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 99.2th percentile).

medium confidence · 99.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: polycythemia

15

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

43 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.

"Polycythemia vera" OR "Acquired primary erythrocytosis" OR "Osler-Vaquez disease" OR "Polycythemia rubra vera" OR "Vaquez disease" OR "polycythaemia rubra vera" OR "polycythemia vera, somatic"

Run this search on Europe PMC

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

"Polycythemia vera" OR "Acquired primary erythrocytosis" OR "Osler-Vaquez disease" OR "Polycythemia rubra vera" OR "Vaquez disease" OR "polycythaemia rubra vera" OR "polycythemia vera, somatic"

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: 194 interventional · 43 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"polycythemia"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PV

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 2026-07-26T15:05:16.219Z