ORPHA:93583
Congenital thrombotic thrombocytopenic purpura
Also known as: Congenital ADAMTS-13 deficiency · Congenital TTP · Familial TTP · Upshaw-Schulman syndrome · cTTP
Publications
9,115
Trials
3
Interventional, condition-specific
Researchers
992
Distinct authors in sample
Gene link
ADAMTS13
Definitive
Readiness
4/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010122
- OMIM:274150
- UMLS:C1268935
- NCIT:C131657
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.”
4/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — ADAMTS13
- LiteraturePresent
9,115 matched papers (6,249 in last 10 years) Source
- Phenotype characterisedPresent
20 HPO annotations (e.g. Microscopic hematuria; Myocardial infarction; Fever) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
3 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)
20
Associated phenotypes · MONDO:0010122
- Microscopic hematuria
- Myocardial infarction
- Fever
- Increased blood urea nitrogen
- Jaundice
Showing 5 of 20 — 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)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
3
Drugs / clinical candidates · MONDO_0010122
- APADAMTASE ALFA·phase 3
- ACETYLCYSTEINE·phase 2 3
- AZITHROMYCIN·unknown
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
9,115
9,115 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.
9,115 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).
6,249 in the last 10 years · low confidence
Phrase hits: 1,075 · MeSH hits: 0
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.
- 01Matsumoto 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 - 02Scully M13 papers · 2026
Department of Haematology, UCLH and Cardiometabolic Programme-NIHR UCLH/UC BRC London, London, UK.
Papers in Europe PMC - 03George JN10 papers · 2026
Departments of Medicine, Biostatistics and Epidemiology, University of Oklahoma Health Sciences Center, Oklahoma City, OK.
Papers in Europe PMC - 04Kokame K9 papers · 2025
Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Japan.
Papers in Europe PMC - 05Kremer Hovinga JA9 papers · 2026
Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, and.
Papers in Europe PMC - 06Lämmle B9 papers · 2026
Center for Thrombosis and Hemostasis, University Medical Center, Mainz, Germany.
Papers in Europe PMC - 07Fujimura Y8 papers · 2026
Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.
Papers in Europe PMC - 08Sakai K8 papers · 2026
Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.
Papers in Europe PMC - 09Coppo 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 - 10Miyata 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?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting. 32 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 11 September 2026 · last trial check 28 July 2026
3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).
low confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 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
32
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
- NCT06291025·RECRUITING·Efficacy and Safety of Immunosuppression, Caplacizumab and Plasma Infusion Without Therapeutic Plasma Exchange in Immune-mediated Thrombotic Thrombocytopenic Purpura
Not reviewed·Conditions: Thrombotic Microangiopathies·Matched via name phrase
- NCT06794008·RECRUITING·BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases
Not reviewed·Conditions: Systemic Lupus Erythematosus · Inflammatory Myopathy · Systemic Sclerosis (SSc) · ANCA-associated Vasculitis·Matched via name phrase
- NCT05568147·NOT YET RECRUITING·Aspirin for Prophylaxis of TTP
Not reviewed·Conditions: Thrombotic Thrombocytopenic Purpura·Matched via name phrase
- NCT06928233·RECRUITING·Association of TNFAIP3 With Immune-mediated TTP
Not reviewed·Conditions: Thrombotic Thrombocytopenic Purpura, Acquired·Matched via name phrase
- NCT06831058·RECRUITING·A Pilot Study of Efgartigimod for Immune-mediated Thrombotic Thrombocytopenic Purpura (iTTP)
Not reviewed·Conditions: Immune-mediated Thrombotic Thrombocytopenic Purpura·Matched via name phrase
Observational and natural-history studies
5 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
- NCT07429942·NOT YET RECRUITING·A Study to Learn More About the Treatment of People With Congenital Thrombotic Thrombocytopenic Purpura (cTTP) Who Received Recombinant ADAMTS13 (rADAMTS13) as Part of the Early Access Program
Not reviewed·Conditions: Thrombotic Thrombocytopenic Purpura (TTP)·Matched via name phrase
- NCT06441578·RECRUITING·A Survey of Recombinant ADAMTS13 in Participants With Congenital Thrombotic Thrombocytopenic Purpura
Not reviewed·Conditions: Thrombotic Thrombocytopenic Purpura (TTP)·Matched via name phrase
- NCT07353099·RECRUITING·A Study in Children and, Adults With Congenital Thrombotic Thrombocytopenic Purpura (cTTP) Treated With Adzynma
Not reviewed·Conditions: Thrombotic Thrombocytopenic Purpura (TTP)·Matched via name phrase
- NCT01257269·RECRUITING·Genotype and Phenotype Correlation in Hereditary Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
Not reviewed·Conditions: Thrombotic Thrombocytopenic Purpura · Congenital Thrombotic Thrombocytopenic Purpura · Familial Thrombotic Thrombocytopenic Purpura · Thrombotic Thrombocytopenic Purpura, Congenital·Matched via name phrase
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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-30
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 (2)
- ctis·2024-513839-24-00·Cancelled·A phase 3b, prospective, open-label, multicenter, single treatment arm, continuation study of the safety and efficacy of TAK-755 (rADAMTS-13, also know as BAX930/SHP655) in the prophylactic and on-demand treatment of subjects with severe congenital thrombotic thrombocytopenic purpura (cTTP; Upshaw-Schulman Syndrome, or hereditary thrombotic thrombocytopenic purpura)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN93757751·No longer recruiting·Comparing intrauterine insemination and in vitro fertilisation for unexplained infertility: a study on effectiveness and costs
skipped — LLM skipped (--skip-llm)
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 Congenital thrombotic thrombocytopenic purpura — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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") OR ("ADAMTS13" OR "ADAMTS13 syndrome" OR "ADAMTS13-related")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"
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: 3 interventional · 5 observational · 1 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"thrombotic thrombocytopenic purpura"
Query health: ok — strategies attempted: phrase; with hits: phrase
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 (9115) 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