ORPHA:851
Paris-Trousseau thrombocytopenia
Publications
23
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
160
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.
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:0008557
- OMIM:188025
- UMLS:C1956093
Additional Mondo synonyms (1)
thrombocytopenia, Paris-Trousseau type, Isolated cases
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
23 matched papers (13 in last 10 years) Source
- Phenotype characterisedPresent
12 HPO annotations (e.g. Intellectual disability; Abnormality of the cardiovascular system; Micrognathia) 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
12
Associated phenotypes · MONDO:0008557
- Intellectual disability
- Abnormality of the cardiovascular system
- Micrognathia
- Pyloric stenosis
- Ptosis
Showing 5 of 12 — 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
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
23
23 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
23 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 23 · MeSH hits: 0
Who's working on it?
160
Distinct author names in 23 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Kunishima S3 papers · 2018
Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;
Papers in Europe PMC - 02Bury L2 papers · 2021
Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;
Papers in Europe PMC - 03Favier R2 papers · 2016
Assistance Publique, Hôpitaux de Paris, Armand Trousseau Children Hospital, Paris, Inserm U1170, Villejuif, France;
Papers in Europe PMC - 04Gresele P2 papers · 2021
Department of Internal Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;
Papers in Europe PMC - 05Hamed M2 papers · 2024
Institute for Biostatistics and Informatics in Medicine and Ageing Research (IBIMA), Rostock University Medical Center, 18057 Rostock, Germany.
Papers in Europe PMC - 06Alessi MC1 paper · 2016
Institut National de la Santé et de la Recherche Médicale, Faculté de Médecine, Marseille, France;
Papers in Europe PMC - 07Almazni I1 paper · 2019
Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom.
Papers in Europe PMC - 08Antona V1 paper · 2021
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Palermo, Italy.
Papers in Europe PMC - 09Attwood AP1 paper · 2016
Department of Haematology, University of Cambridge, National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, and National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom;
Papers in Europe PMC - 10Bąbol-Pokora K1 paper · 2026
Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, 251 Pomorska Street, Lodz, 92-213, Poland.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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 (59)
- ctis·2024-517888-23-00·Authorised·Model-informed precision dosing for linezolid: a randomized clinical trial
skipped — LLM skipped (--skip-llm)
- ctis·2026-525350-11-00·Authorised, ongoing·A study to investigate a potential effect of rilzabrutinib (SAR444671) on ethinylestradiol and levonorgestrel from combined oral contraceptives in healthy female participants
skipped — LLM skipped (--skip-llm)
- ctis·2025-524209-34-00·Authorised, ongoing·A Randomized, Multi-Center, Double-Blind, Phase III Study Evaluating the Efficacy and Safety of Hetrombopag Olamine Tablets vs Placebo in Patients with Chemotherapy-Induced Thrombocytopenia
skipped — LLM skipped (--skip-llm)
- ctis·2025-521286-27-00·Authorised, ongoing·INCA000585-201 - A PHASE 2A, OPEN-LABEL, MULTI-CENTER STUDY OF TAFASITAMAB IN ADULT PARTICIPANTS WITH AUTOIMMUNE BLOOD CELL DISORDERS
skipped — LLM skipped (--skip-llm)
- ctis·2025-522509-39-00·Authorised, ongoing·Pacritinib For The Reduction Of Bone Marrow Fibrosis In Patients With Myelofibrosis Who Have Thrombocytopenia; A Multicenter, Open-Label, Single Arm, Phase II Exploratory Study
skipped — LLM skipped (--skip-llm)
- ctis·2025-523355-59-00·Authorised·A Phase 1, Randomized, Double-Blind, Two-Arm, Two-Way Crossover Study of Pharmacokinetics and Pharmacodynamics of QL0911
skipped — LLM skipped (--skip-llm)
- ctis·2024-518231-11-00·Cancelled·Exploratory Study of Ianalumab in Adults with Primary Immune Thrombocytopenia (ITP) and Warm-antibody Autoimmune Hemolytic Anemia (wAIHA) who Have
Previously Benefited from Ianalumab (VAY RE-HIT)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521692-31-00·Authorised, ongoing·A Phase 3, Open-label, Multicenter Continuation Trial to Evaluate the Long-term Safety and Efficacy of Mezagitamab Subcutaneous Injection in Adults with Chronic Primary Immune Thrombocytopenia
skipped — LLM skipped (--skip-llm)
- ctis·2024-519745-30-01·Authorised, ongoing·A Phase 1b/2a, Open-Label, Sequential-Cohort, Dose Escalation and Expansion Study to Evaluate Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Clinical Effectiveness of Budoprutug (TNT119) in Subjects with Immune Thrombocytopenia (ITP)
skipped — LLM skipped (--skip-llm)
- ctis·2024-517710-15-00·Authorised, ongoing·Preoperative use of Romiplostim in thrombocytopenic patients undergoing cardiac surgery. A Phase 3, multicenter randomized double-blinded controlled against placebo study
skipped — LLM skipped (--skip-llm)
- ctis·2024-514401-54-00·Authorised, ongoing·A Phase 3, Randomized, Double-blind, Placebo-controlled Study to Evaluate Efficacy and Safety of Mezagitamab Subcutaneous Injection in Participants with Chronic Primary Immune Thrombocytopenia
skipped — LLM skipped (--skip-llm)
- ctis·2025-520918-64-00·Authorised, recruiting·A Phase II Open-Label Pilot Trial Assessing the Safety of Anifrolumab in Adult Patients with Primary Antiphospholipid Syndrome (APS). The AnifAPS trial.
skipped — LLM skipped (--skip-llm)
- ctis·2025-522070-36-00·Authorised, recruiting·A multi-center, open-label, single-arm study to evaluate the efficacy and safety of oral rilzabrutinib in adults with immune thrombocytopenia (ITP) who failed first-line treatment
skipped — LLM skipped (--skip-llm)
- ctis·2025-521055-23-00·Authorised, recruiting·ARGX-113-2409: A Multicenter, Randomized, Double-blinded, Parallel-Arm, Placebo- Controlled, Pharmacokinetic and Pharmacodynamic Study Followed by an Open-Label Arm to Evaluate Efgartigimod IV in Pediatric Participants from 12 Years to Less Than 18 Years of Age with Chronic ITP
skipped — LLM skipped (--skip-llm)
- ctis·2025-520473-40-00·Authorised, ongoing·A Multicentre, Parallel-group, Phase IIb, Randomised, Double blind, Placebo-controlled, 4-Arm, 24-Week Study to Evaluate the Efficacy and Safety of AZD6793 Tablets in Adult Participants with Moderate to Very Severe Chronic Obstructive Pulmonary Disease (PRESTO).
skipped — LLM skipped (--skip-llm)
- ctis·2024-520359-26-00·Authorised, ongoing·An Open-Label, Dose-Ranging Study to Evaluate the Safety, Tolerability, and Efficacy of Intravenous NVG-2089 in Participants with Immune Thrombocytopenia
skipped — LLM skipped (--skip-llm)
- ctis·2024-519966-31-00·Authorised, ongoing·Phase I/IIa clinical trial with dose escalation to evaluate safety and efficacy of the infusion of CART84 in relapsed/refractory (R/R) acute myeloid leukemia (AML) and acute lymphoblastic T leukemia patients (T-ALL).
skipped — LLM skipped (--skip-llm)
- ctis·2024-518972-30-00·Authorised, ongoing·A phase I/II open label study to assess safety, feasibility and efficacy of ex vivo expanded, autologous haematopoietic stem and progenitor cell populations that contain CD34+ cells transduced with a lentiviral vector encoding the TCIRG1 cDNA in children with autosomal recessive osteopetrosis caused by mutations in the TCIRG1 gene.
skipped — LLM skipped (--skip-llm)
- ctis·2024-515956-19-00·Authorised·TociCCAre - Randomized, double-blind, multicenter trial of tocilizumab versus placebo in chronic polyarticular inflammatory of calcium pyrophosphate deposition disease refractory to standard treatments
skipped — LLM skipped (--skip-llm)
- ctis·2024-518502-40-00·Authorised, recruiting·A Phase 1/2, Dose-finding Study Investigating the Safety and Efficacy of Pirtobrutinib in Adults with Immune Thrombocytopenia
skipped — LLM skipped (--skip-llm)
- ctis·2023-507115-35-00·Authorised, recruiting·A Phase III, Open-label, Single Arm, Prospective, Multicenter Study to Assess Efficacy and Safety of Kedrion Intravenous Human Normal Immunoglobulin (IVIg) 10% in Adult Patients with Chronic Immune Thrombocytopenia (ITP)
skipped — LLM skipped (--skip-llm)
- ctis·2022-501557-36-00·Authorised, ongoing·OBI-WAN : Obinutuzumab for remission induction in patients with relapsing PR3-ANCA granulomatosis with polyangiitis (Wegener’s). Phase 2 prospective, open-label study
skipped — LLM skipped (--skip-llm)
- ctis·2024-511346-39-00·Authorised, recruiting·Phase IB open label, long-term, extension basket trial of RAY121 to inhibit classical complement pathway in immunological diseases (RAINBOW-LTE trial)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509131-12-01·Authorised, ongoing·A phase II trial aiming to investigate the safety and clinical activity of belantamab mafodotin in adult patients with primary immune thrombocytopenia previously treated with a thrombopoietin receptor agonist and/or rituximab after corticosteroid first-line therapy - BONSAI
skipped — LLM skipped (--skip-llm)
- ctis·2024-517283-28-00·Authorised, ongoing·T-Guard against Autoreactive T cells in Systemic sclerosis: Erasion and Resolution (TASER)
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 Paris-Trousseau thrombocytopenia — 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.
"Paris-Trousseau thrombocytopenia" OR "thrombocytopenia, Paris-Trousseau type, Isolated cases"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Paris-Trousseau thrombocytopenia" OR "thrombocytopenia, Paris-Trousseau type, Isolated cases"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T15:38:30.107Z