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ORPHA:824

Primary myelofibrosis

medium confidenceDisorder

Also known as: Agnogenic myeloid metaplasia · Idiopathic myelofibrosis · Myelofibrosis with myeloid metaplasia · Osteomyelofibrosis

Publications

13,748

95th percentile

Trials

168

Interventional, condition-specific

Researchers

1,275

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare myeloproliferative neoplasm characterized by stem-cell derived clonal over proliferation of mature myeloid lineages, such as erythrocytes, leukocytes, and megakaryocytes, with variable degrees of megakaryocyte atypia, associated with reticulin and/or collagen bone marrow fibrosis, osteosclerosis, ineffective erythropoiesis, angiogenesis, extramedullary hematopoiesis, and abnormal cytokine expression.

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 (10)

AMM · CIMF · chronic idiopathic myelofibrosis · idiopathic bone marrow fibrosis · idiopathic myelofibrosis · myelofibrosis with myeloid metaplasia, somatic · myelofibrosis, somatic · myelosclerosis with myeloid metaplasia · osteomyelofibrosis · primary myelofibrosis

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.”

5/6 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

    13,748 matched papers (5,623 in last 10 years) Source

  3. Phenotype characterisedPresent

    45 HPO annotations (e.g. Hepatomegaly; Portal hypertension; Anorexia) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    2 FDA · 8 EMA designations (1 FDA orphan-indication approval) — e.g. pacritinib Source

  6. Interventional trialPresent

    168 matched on ClinicalTrials.gov (19 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)

45

Associated phenotypes · MONDO:0009692

  • Hepatomegaly
  • Portal hypertension
  • Anorexia
  • Arterial thrombosis
  • Venous thrombosis

Showing 5 of 45 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

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)

10

Designations · 1 with FDA orphan-indication approval

  • FDA pacritinibPrimary Myelofibrosis Myelofibrosis Polycythemia Vera ESSENTIAL THROMBOCYTHEMIA · 2008-03-13 · Not FDA Approved for Orphan Indication
  • EMA 11-(2-pyrrolidin-1-yl-ethoxy)-14,19-dioxa-5,7,26-triaza-tetracyclo[19.3.1.1(2,6).1(8,12)] heptacosa-1(25),2(26),3,5,8,10,12(27),16,21,23-decaene (Enpaxiq; Epjevy)Treatment of primary myelofibrosis · 25/08/2010 · PositiveEMA designation
  • EMA recombinant human pentraxin-2Treatment of primary myelofibrosis · 19/11/2014 · PositiveEMA designation
  • EMA N-(cyanomethyl)-4-(2-{[4-(morpholin-4-yl)phenyl]amino}pyrimidin-4-yl)benzamide, dihydrochloride salt (momelotinib) (Omjjara)Treatment of primary myelofibrosis · 05/08/2011 · PositiveEMA designation
  • EMA N-tert-butyl-3-[(5-methyl-2-{[4-(2-pyrrolidin-1-ylethoxy)phenyl]amino}pyrimidin-4-yl)amino] benzenesulfonamide dihydrochloride monohydrate (fedratinib) (Inrebic)Treatment of primary myelofibrosis · 01/10/2010 · PositiveEMA designation
  • EMA PomalidomideTreatment of primary myelofibrosis · 27/07/2010 · WithdrawnEMA designation
  • EMA plitidepsinTreatment of primary myelofibrosis · 23/02/2011 · WithdrawnEMA designation
  • FDA Fedratinib (INREBIC)Primary Myelofibrosis · 2009-05-18

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

63

Drugs / clinical candidates · MONDO_0009692

CTD chemicals (MyDisease.info)

17 associated chemicals · 136 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cladribine · therapeutic
  • Cytarabine · therapeutic
  • Danazol · therapeutic
  • Decitabine · therapeutic
  • Hydroxyurea · therapeutic
  • Lenalidomide · therapeutic
  • Melphalan · therapeutic
  • pacritinib · therapeutic
  • Prednisolone · therapeutic
  • Prednisone · therapeutic
  • Thalidomide · therapeutic
  • trichostatin A · therapeutic

Pathways: Lysine degradation; EGFR tyrosine kinase inhibitor resistance; Cytokine-cytokine receptor interaction; Chemokine signaling pathway; Protein processing in endoplasmic reticulum; Phagosome; PI3K-Akt signaling pathway; Signaling pathways regulating pluripotency of stem cells

MyDisease.info · MONDO:0009692

Literature

Is anyone studying this?

13,748

13,748 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.

13,748 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).

5,623 in the last 10 years · medium confidence · 95th percentile (publications denominator)

Phrase hits: 13,748 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,275

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 AM9 papers · 2026

    CRIMM-Centro Ricerca e Innovazione Delle Malattie Mieloproliferative, Azienda Ospedaliera-Universitaria Careggi, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.

    Papers in Europe PMC
  2. 02
    Tefferi A7 papers · 2026

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

    Papers in Europe PMC
  3. 03
    Palandri F5 papers · 2026

    Seragnoli Hematology Institute, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.

    Papers in Europe PMC
  4. 04
    Palumbo GA5 papers · 2026

    Dipartimento di Scienze Mediche, Chirurgiche e Tecnologie Avanzate "G.F. Ingrassia," University of Catania, Catania, Italy.

    Papers in Europe PMC
  5. 05
    Zhang J5 papers · 2026

    State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.

    Papers in Europe PMC
  6. 06
    Barbui T4 papers · 2026

    FROM Research Foundation, Papa Giovanni XXIII Hospital, Bergamo, Italy.

    Papers in Europe PMC
  7. 07
    Barosi G4 papers · 2026

    Center for the Study of Myelofibrosis, Scientific Direction, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy.

    Papers in Europe PMC
  8. 08
    Duminuco A4 papers · 2026

    Hematology Unit with BMT, A.O.U. Policlinico "G. Rodolico-San Marco", Catania, Italy.

    Papers in Europe PMC
  9. 09
    Gangat N4 papers · 2026

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

    Papers in Europe PMC
  10. 10
    Gianelli U4 papers · 2025

    Department of Health Sciences and S.C. Anatomia Patologica, ASST -Santi Paolo e Carlo, University of Milan, Milan, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

168

interventional trials for this specific condition

168 interventional trials matched this specific condition name; 19 currently recruiting in our sample.

Data as of 11 September 2026

168 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.1th percentile).

medium confidence · 99.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

25 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 28 · after dedupe 28 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 28 · dropped 0 · fetched 2026-07-29

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 (28)

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 Primary myelofibrosis — 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.

"Primary myelofibrosis" OR "Agnogenic myeloid metaplasia" OR "Idiopathic myelofibrosis" OR "Myelofibrosis with myeloid metaplasia" OR "Osteomyelofibrosis" OR "chronic idiopathic myelofibrosis" OR "idiopathic bone marrow fibrosis" OR "myelofibrosis with myeloid metaplasia, somatic" OR "myelofibrosis, somatic" OR "myelosclerosis with myeloid metaplasia"

Run this search on Europe PMC

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

"Primary myelofibrosis" OR "Agnogenic myeloid metaplasia" OR "Idiopathic myelofibrosis" OR "Myelofibrosis with myeloid metaplasia" OR "Osteomyelofibrosis" OR "chronic idiopathic myelofibrosis" OR "idiopathic bone marrow fibrosis" OR "myelofibrosis with myeloid metaplasia, somatic" OR "myelofibrosis, somatic" OR "myelosclerosis with myeloid metaplasia"

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: 168 interventional · 25 observational · 2 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AMM; CIMF

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:33:37.683Z