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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

2/6

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.”

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

    13,473 matched papers (7,127 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

    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)

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?

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=5449) is 41.

13,473 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).

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 27 July 2026

38 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 96.4th percentile).

low confidence · 96.4th 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

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.

"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