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ORPHA:3002

Immune thrombocytopenia

medium confidenceDisorder

Also known as: ITP · Immune thrombocytopenic purpura

Publications

30,973

98.2th percentile

Trials

386

Interventional, condition-specific

Researchers

1,138

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

autoimmune thrombocytopenic purpura · idiopathic thrombocytopenia · idiopathic thrombocytopenia purpura · idiopathic thrombocytopenic purpura · thrombocytopenic purpura, autoimmune

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

    30,973 matched papers (17,257 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Thrombocytopenia; Petechiae; Purpura) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    13 FDA · 7 EMA designations (8 FDA orphan-indication approvals) — e.g. Cepharanthine Source

  6. Interventional trialPresent

    386 matched on ClinicalTrials.gov (110 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)

23

Associated phenotypes · MONDO:0008558

  • Thrombocytopenia
  • Petechiae
  • Purpura
  • Anti-glutamic acid decarboxylase antibody positivity
  • Anti-thyroid peroxidase antibody positivity

Showing 5 of 23 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

22

Designations · 8 with FDA orphan-indication approval

  • FDA CepharanthineImmune thrombocytopenia Immune Thrombocytopenia · 2020-09-22 · Not FDA Approved for Orphan Indication
  • FDA efgartigimodImmune thrombocytopenia Immune Thrombocytopenia · 2019-02-01 · Not FDA Approved for Orphan Indication
  • FDA rilzabrutinibImmune thrombocytopenic purpura · 2018-10-15 · Not FDA Approved for Orphan Indication
  • FDA RozanolixizumabImmune thrombocytopenic purpura · 2018-04-30 · Not FDA Approved for Orphan Indication
  • FDA veltuzumabImmune thrombocytopenic purpura · 2015-07-28 · Not FDA Approved for Orphan Indication
  • FDA toralizumabImmune thrombocytopenic purpura · 2002-03-14 · Not FDA Approved for Orphan Indication
  • FDA rituximabImmune thrombocytopenic purpura · 2002-03-12 · Not FDA Approved for Orphan Indication
  • FDA Medroxyprogesterone acetateImmune thrombocytopenic purpura · 2001-02-22 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

108

Drugs / clinical candidates · MONDO_0008558

CTD chemicals (MyDisease.info)

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

  • Adrenal Cortex Hormones · therapeutic
  • Cyclosporine · therapeutic
  • Danazol · therapeutic
  • deflazacort · therapeutic
  • Hydrocortisone · therapeutic
  • Methylprednisolone · therapeutic
  • Prednisone · therapeutic
  • rilzabrutinib · therapeutic
  • Staphylococcal Protein A · therapeutic
  • Tranexamic Acid · therapeutic
  • Vincristine · therapeutic
  • Acetaminophen · marker/mechanism

Pathways: Disease; Diseases of glycosylation; Diseases associated with O-glycosylation of proteins; Metabolism of proteins; Defective B3GALTL causes Peters-plus syndrome (PpS); O-linked glycosylation; O-glycosylation of TSR domain-containing proteins; Post-translational protein modification

MyDisease.info · MONDO:0008558

Literature

Is anyone studying this?

30,973

30,973 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.

30,973 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).

17,257 in the last 10 years · medium confidence · 98.2th percentile (publications denominator)

Phrase hits: 30,973 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,138

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
    Li Y4 papers · 2026

    Hebei Key Laboratory of Hematology, Department of Hematology, The Second Hospital of Hebei Medical University, Shijiazhuang, China.

    Papers in Europe PMC
  2. 02
    Saki N3 papers · 2026

    Thalassemia & Hemoglobinopathy Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.

    Papers in Europe PMC
  3. 03
    Wang Z3 papers · 2026

    Songjiang District Sijing Hospital, Shanghai, 201600, China.

    Papers in Europe PMC
  4. 04
    Zhang X3 papers · 2026

    School of Basic Medical Sciences, Southwest Medical University, Luzhou 646000, China; (J.D.); (Y.Z.)

    Papers in Europe PMC
  5. 05
    AbuBaha M2 papers · 2025

    Department of Medicine An-Najah National University Nablus Palestine.

    Papers in Europe PMC
  6. 06
    Aljunaidi R2 papers · 2025

    Faculty of Medicine and Health Sciences Palestine Polytechnic University Hebron Palestine.

    Papers in Europe PMC
  7. 07
    Almasalma M2 papers · 2026

    Faculty of Medicine, Mansoura University, Mansoura, Egypt.

    Papers in Europe PMC
  8. 08
    Alqadi M2 papers · 2025

    Department of Medicine University of Toledo Toledo Ohio USA.

    Papers in Europe PMC
  9. 09
    Amin MK2 papers · 2025

    Division of Hematologic Malignancies & Cellular Therapeutics, University of Kansas Medical Center, Kansas City, KS, USA; Mikael Rayaan Foundation Global Transplantation and Cellular Therapy Consortium, Kansas City, KS, USA.

    Papers in Europe PMC
  10. 10
    Baniowda M2 papers · 2025

    Department of Medicine University of Missouri-Kansas City Kansas City Missouri USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

386

interventional trials for this specific condition

386 interventional trials matched this specific condition name; 110 currently recruiting in our sample. 319 trials are registered for thrombocytopenia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

386 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

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

Broader category: thrombocytopenia

319

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

105 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 87 · after dedupe 86 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 85 · 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 (85)

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 Immune thrombocytopenia — 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.

"Immune thrombocytopenia" OR "Immune thrombocytopenic purpura" OR "autoimmune thrombocytopenic purpura" OR "idiopathic thrombocytopenia" OR "idiopathic thrombocytopenia purpura" OR "idiopathic thrombocytopenic purpura" OR "thrombocytopenic purpura, autoimmune"

Run this search on Europe PMC

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

"Immune thrombocytopenia" OR "Immune thrombocytopenic purpura" OR "autoimmune thrombocytopenic purpura" OR "idiopathic thrombocytopenia" OR "idiopathic thrombocytopenia purpura" OR "idiopathic thrombocytopenic purpura" OR "thrombocytopenic purpura, autoimmune"

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: 386 interventional · 105 observational · 2 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"thrombocytopenia"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: ITP

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 2026-07-26T21:58:04.493Z