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ORPHA:93583

Congenital thrombotic thrombocytopenic purpura

low confidenceSubtype of disorder

Also known as: Congenital ADAMTS-13 deficiency · Congenital TTP · Familial TTP · Upshaw-Schulman syndrome · cTTP

Publications

1,075

Trials

5

Interventional, condition-specific

Researchers

992

Distinct authors in sample

Gene link

ADAMTS13

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

congenital ADAMTS-13 deficiency · congenital ADAMTS13 deficiency · congenital TTP · congenital thrombotic thrombocytopenic purpura · familial TTP · hereditary thrombotic thrombocytopenic purpura · thrombotic thrombocytopenic purpura, hereditary

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.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — ADAMTS13

  2. LiteraturePresent

    1,075 matched papers (712 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

    5 matched on ClinicalTrials.gov

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?

Yes — we know a specific gene responsible (ADAMTS13).

GenCC classification: Definitive.

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?

1,075

1,075 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,075 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).

712 in the last 10 years · low confidence

Phrase hits: 1,075 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

992

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
    Matsumoto M15 papers · 2026

    Department of Blood Transfusion Medicine and Department of Hematology, Nara Medical University, 840 Shijyo-cho, Kashihara, Nara, 634-8521, Japan. mmatsumo@naramed-u.ac.jp.

    Papers in Europe PMC
  2. 02
    Scully M13 papers · 2026

    Department of Haematology, UCLH and Cardiometabolic Programme-NIHR UCLH/UC BRC London, London, UK.

    Papers in Europe PMC
  3. 03
    George JN10 papers · 2026

    Departments of Medicine, Biostatistics and Epidemiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK.

    Papers in Europe PMC
  4. 04
    Kokame K9 papers · 2025

    Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan.

    Papers in Europe PMC
  5. 05
    Kremer Hovinga JA9 papers · 2026

    Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, and.

    Papers in Europe PMC
  6. 06
    Lämmle B9 papers · 2026

    Center for Thrombosis and Hemostasis, University Medical Center, Mainz, Germany.

    Papers in Europe PMC
  7. 07
    Fujimura Y8 papers · 2026

    Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.

    Papers in Europe PMC
  8. 08
    Sakai K8 papers · 2026

    Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.

    Papers in Europe PMC
  9. 09
    Coppo P7 papers · 2026

    National Reference Center for Thrombotic Microangiopathy, Hôpital Saint-Antoine, Assistance Publique-Hôpitaux de Paris and Sorbonne – Université (AP-HP.6), Paris, France

    Papers in Europe PMC
  10. 10
    Miyata T6 papers · 2023

    Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan. miyata@ncvc.go.jp.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting. 31 trials are registered for thrombotic thrombocytopenic purpura, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

low confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: thrombotic thrombocytopenic purpura

31

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

9 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.

"Congenital thrombotic thrombocytopenic purpura" OR "Congenital ADAMTS-13 deficiency" OR "Congenital TTP" OR "Familial TTP" OR "Upshaw-Schulman syndrome" OR "congenital ADAMTS13 deficiency" OR "hereditary thrombotic thrombocytopenic purpura" OR "thrombotic thrombocytopenic purpura, hereditary"

Run this search on Europe PMC

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

"Congenital thrombotic thrombocytopenic purpura" OR "Congenital ADAMTS-13 deficiency" OR "Congenital TTP" OR "Familial TTP" OR "Upshaw-Schulman syndrome" OR "congenital ADAMTS13 deficiency" OR "hereditary thrombotic thrombocytopenic purpura" OR "thrombotic thrombocytopenic purpura, hereditary" OR "ADAMTS13"

Recall-expansion terms: ADAMTS13

Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 5 interventional · 9 observational · 1 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"thrombotic thrombocytopenic purpura"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: cTTP

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 (1075) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T04:25:30.680Z