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ORPHA:54057

Thrombotic thrombocytopenic purpura

low confidenceDisorder

Also known as: Moschcowitz disease · TTP

Publications

13,473

Trials

38

Interventional, condition-specific

Researchers

1,036

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a (cTTP) and acquired, immune-mediated (iTTP) form.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

Moschowitz disease

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

    13,473 matched papers (7,127 in last 10 years) Source

  3. Phenotype characterisedPresent

    83 HPO annotations (e.g. Thrombocytopenia; Reticulocytosis; Microangiopathic hemolytic anemia) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    4 EMA designations (none yet with FDA orphan-indication approval) — e.g. nanobody directed towards the human A1 domain of von Willebrand factor (caplacizumab) Source

  6. Interventional trialPresent

    38 matched on ClinicalTrials.gov (5 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)

83

Associated phenotypes · MONDO:0018896

  • Thrombocytopenia
  • Reticulocytosis
  • Microangiopathic hemolytic anemia
  • Dyspnea
  • Confusion

Showing 5 of 83 — 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)

4

Designations · no FDA orphan-indication approval yet

  • EMA nanobody directed towards the human A1 domain of von Willebrand factor (caplacizumab) (Cablivi)Treatment of thrombotic thrombocytopenic purpura · 30/04/2009 · PositiveEMA designation
  • EMA urokinase, catalytic domain, fused with a single-chain antibody against von Willebrand factorTreatment of thrombotic thrombocytopenic purpura · 25/07/2024 · PositiveEMA designation
  • EMA recombinant human ADAMTS-13 (Adzynma)Treatment of thrombotic thrombocytopenic purpura · 03/12/2008 · PositiveEMA designation
  • EMA anti-von Willebrand aptamerTreatment of thrombotic thrombocytopenic purpura · 03/06/2008 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

11

Drugs / clinical candidates · MONDO_0018896

CTD chemicals (MyDisease.info)

16 associated chemicals · 16 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Adrenal Cortex Hormones · therapeutic
  • Aspirin, Dipyridamole Drug Combination · therapeutic
  • Bleomycin · marker/mechanism
  • Bupropion · marker/mechanism
  • Cisplatin · marker/mechanism
  • Clopidogrel · marker/mechanism
  • Cocaine · marker/mechanism
  • Crack Cocaine · marker/mechanism
  • Cyclosporine · marker/mechanism
  • Gemcitabine · marker/mechanism
  • Mitomycin · marker/mechanism
  • Quinine · marker/mechanism

Pathways: Complement and coagulation cascades; AGE-RAGE signaling pathway in diabetic complications; Fluid shear stress and atherosclerosis; Hemostasis; Extrinsic Pathway of Fibrin Clot Formation; Common Pathway of Fibrin Clot Formation; Formation of Fibrin Clot (Clotting Cascade); Disease

MyDisease.info · MONDO:0018896

Literature

Is anyone studying this?

13,473

13,473 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.

13,473 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).

7,127 in the last 10 years · low confidence

Phrase hits: 13,470 · MeSH hits: 20

Open Europe PMC search

Who's working on it?

1,036

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
    Coppo P8 papers · 2026

    Université Paris Cité, Sorbonne Université, INSERM UMRS1138, Centre de Recherche des Cordeliers, Paris, France.

    Papers in Europe PMC
  2. 02
    Scully M8 papers · 2026

    Haemostasis and Thrombosis, Hematopathology and Blood Transfusion, University College London Hospitals, London, United Kingdom.

    Papers in Europe PMC
  3. 03
    Chaturvedi S6 papers · 2026

    Division of Hematology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

    Papers in Europe PMC
  4. 04
    Halkidis K6 papers · 2026

    Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA.

    Papers in Europe PMC
  5. 05
    Vanhoorelbeke K6 papers · 2026

    Laboratory for Thrombosis Research, KU Leuven Campus Kulak Kortrijk, Kortrijk, Belgium.

    Papers in Europe PMC
  6. 06
    Zheng XL6 papers · 2026

    Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA.

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

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Peyvandi F5 papers · 2026

    Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Völker LA5 papers · 2026

    Department II, Internal Medicine and Center for Molecular Medicine Cologne, Faculty of Medicine and University Hospital of Cologne, University of Cologne, Cologne, Germany.

    Papers in Europe PMC
  10. 10
    Bonnez Q4 papers · 2026

    Laboratory for Thrombosis Research, KU Leuven Kulak, Kortrijk, Belgium.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

38

interventional trials for this specific condition

38 interventional trials matched this specific condition name; 5 currently recruiting in our sample. 128 trials are registered for thrombocytopenic purpura, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

38 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 96.6th percentile).

low confidence · 96.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: thrombocytopenic purpura

128

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

30 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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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 (15)

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 Thrombotic thrombocytopenic purpura — 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.

"Thrombotic thrombocytopenic purpura" OR "Moschcowitz disease" OR "Moschowitz disease"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Purpura, Thrombotic Thrombocytopenic

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

"Thrombotic thrombocytopenic purpura" OR "Moschcowitz disease" OR "Moschowitz disease" OR "Purpura, Thrombotic Thrombocytopenic"

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: 38 interventional · 30 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"thrombocytopenic purpura"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: TTP

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
  • Publication count (13473) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T00:55:21.020Z