血栓性血小板减少性紫癜

定义 英文原文（暂无中文）

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 congenital (cTTP) and acquired, immune-mediated (iTTP) form.

别名

Moschcowitz病

基本事实

遗传方式

常染色体隐性、多基因/多因素

发病年龄

各年龄段

患病率

1-9 / 1 000 000

相关基因 1来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

临床表型 22

近两年的全球研究 1,725L2

2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-11
  Clinical Practice Guideline: The Diagnosis, Treatment, and Follow-Up Management of Thrombotic Thrombocytopenic Purpura
  Deutsches Arzteblatt international · DOI · Europe PMC
• 2026-10
  Schistocytes Are a Clue, Not a Gatekeeper in Thrombotic Microangiopathy
  American journal of hematology · DOI · Europe PMC
• 2026-10开放获取
  Plasma Exchange for Hantavirus Pulmonary Syndrome: A Mechanistic Case for an Untested Intervention
  Journal of clinical apheresis · DOI · Europe PMC
• 2026-10
  Caution in the Bag: A Sheet-Like Deposit as a Visual Clue to Systemic Derangement in Immune-Mediated TTP
  Journal of clinical apheresis · DOI · Europe PMC
• 2026-10病例报告
  Hereditary TTP and Hemolytic Anemia in Newborns
  Pediatrics · DOI · Europe PMC
• 2026-10
  Evolution of Therapeutic Plasma Exchange Use and Outcomes in Children Across American Society for Apheresis Categories: A Single-Center Cohort Study
  Journal of clinical apheresis · DOI · Europe PMC
• 2026-10
  Unbiased plasma proteomics reveals hemolysis during ADAMTS13 relapse in patients with immune TTP
  Blood advances · DOI · Europe PMC
• 2026-09开放获取
  Long Term Follow Up of Hereditary Thrombotic Thrombocytopenic Purpura on Plasma Therapy for 9 Years: A Case Report
  Clinical case reports · DOI · Europe PMC
• 2026-09病例报告
  When two rare diseases meet: atypical hemolytic uremic syndrome and alkaptonuria in two siblings
  CEN case reports · DOI · Europe PMC
• 2026-09综述开放获取
  The Immune Checkpoint Inhibitors Journey: From Early Promise to Lasting Impact
  Journal of immunotherapy and precision oncology · DOI · Europe PMC
• 2026-09开放获取
  Potential Benefit of Ruxolitinib in Suspected Ocular and Neurological Transplant-Associated Thrombotic Microangiopathy After Allogeneic Stem Cell Transplantation: A Case Report and Review
  Clinical case reports · DOI · Europe PMC
• 2026-09开放获取
  Wet purpura and petechiae in a 48-year-old man with immune thrombocytopenia
  CMAJ : Canadian Medical Association journal = journal de l'Association · DOI · Europe PMC
• 2026-09
  An Interactive Database of ADAMTS13 Variants Yields Novel Insight into Thrombotic Thrombocytopenic Purpura
  Blood advances · DOI · Europe PMC
• 2026-09综述病例报告
  Immune Thrombotic Thrombocytopenic Purpura: Diagnosis and Management
  The American journal of nursing · DOI · Europe PMC
• 2026-09
  Cerebral Small Vessel Disease in Immune-Mediated Thrombotic Thrombocytopenic Purpura Patients During the Acute Phase and Disease Remission
  American journal of hematology · DOI · Europe PMC
• 2026-09
  Congenital Thrombotic Thrombocytopenic Purpura Presenting as Isolated Thrombocytopenia: Authors' Reply
  Indian journal of pediatrics · DOI · Europe PMC
• 2026-09开放获取
  Proceedings of the 33rd European Paediatric Rheumatology Congress
  Pediatric rheumatology online journal · DOI · Europe PMC
• 2026-09开放获取
  Pembrolizumab plus chemotherapy as first-line therapy for advanced HER2-negative gastric or gastroesophageal junction adenocarcinoma: 4.5-year follow-up from the randomized phase III KEYNOTE-859 study
  ESMO open · DOI · Europe PMC
• 2026-09病例报告
  Acquired Immune Thrombotic Thrombocytopenic Purpura Following Transaxillary Transcatheter Aortic Valve Replacement: A Rare Life-Threatening Hematologic Emergency
  Cureus · DOI · Europe PMC
• 2026-09
  Atypical hemolytic uremic syndrome in kidney transplantation
  Journal of nephrology · DOI · Europe PMC

境外已获批用于本病的药物 5L2

欧盟 2 项、美国 3 项。同一药物在两地各批一次的，会分别列出。

• Cablivi欧盟2018-08-30
  caplacizumab
  官方记录
• Adzynma欧盟2024-08-01
  rADAMTS13
  官方记录
• CABLIVI美国2019-02-06
  Caplacizumab
  官方记录
• Adzynma美国2023-11-09
  ADAMTS13, recombinant-krhn
  官方记录
• Cablivi美国2025-12-23
  caplacizumab-yhdp
  官方记录

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 183L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 64

• 招募中NCT04518475
  Eltrombopag Combining Rituximab Versus Eltrombopag in the Management of Primary Immune Thrombocytopenia (ITP) in Adults
  IV 期 · 干预性 · 2020/08/10Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT04993885
  Avatrombopag in the Treatment of Adult Immune Thrombocytopenia With Autoantibodies
  II 期 · 干预性 · 2021/09/01Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT05214391
  A Prospective, One-arm and Open Clinical Study of Zanubrutinib in the Treatment of Immune Thrombocytopenia
  II 期 · 干预性 · 2022/02/15Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT05571774
  Construction of a Database for TTP
  观察性 · 2022/10/20The First Affiliated Hospital of Soochow University
  中国研究中心 1 个：Suzhou
• 招募中NCT05995054
  A Prospective, One-arm and Open Clinical Study of Obinutuzumab in the Treatment of Immune Thrombocytopenia
  II 期 · 干预性 · 2023/08/28Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT06107582
  Longitudinal Cohort of Pediatric Primary Immune Thrombocytopenia (ITP)
  观察性 · 2023/11/01Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT06094881
  A Prospective, One-arm and Open Clinical Study of Obinutuzumab in the Treatment of Pediatric Primary Immune Thrombocytopenia (ITP)
  II 期 · 干预性 · 2023/12/01Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT06168851
  Anti-CD38 Antibody Treating Pediatric Primary Immune Thrombocytopenia (ITP)
  II 期 · 干预性 · 2023/12/28Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT06352281
  Efficacy and Safety of CAR-T Cells Therapy for Chronic or Refractory Primary Immune Thrombocytopenia (ITP)
  I 期、II 期 · 干预性 · 2024/02/01920th Hospital of Joint Logistics Support Force of People's Liberation Army of China
  中国研究中心 1 个：Kunming
• 招募中NCT06281327
  Avatrombopag in the Treatment of Pediatric Immune Thrombocytopenia
  II 期 · 干预性 · 2024/03/01Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT06478537
  TPO-RA Treatment on Immune Tolerance Induction of ITP Patients With Sustained Platelet Recovery After Treatment Termination
  II 期 · 干预性 · 2024/06/20Peking Union Medical College Hospital
  中国研究中心 1 个：Beijing
• 招募中NCT06838962
  Anti-CD38 Antibody Treating Children With Primary Immune Thrombocytopenia (ITP)
  II 期 · 干预性 · 2024/08/01Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT06534021
  IASO-782 in Autoimmune Hematological Diseases
  I 期 · 干预性 · 2024/08/08Shanghai IASO Biotechnology Co., Ltd
  中国研究中心 2 个：Tianjin、Wuhan
• 招募中NCT06519565
  Safety and Efficacy of PRG-1801 in Recurrent/Refractory Primary Immune Thrombocytopenia (ITP)
  早期 I 期 · 干预性 · 2024/08/20Union Hospital, Tongji Medical College, Huazhong University of Science and Technology
  中国研究中心 1 个：Wuhan
• 招募中NCT06787989
  BCMA-CD19 CCAR T Cell Treatment of Refractory Immune Thrombocytopenia Associated with Autoimmune Diseases
  I 期 · 干预性 · 2024/08/31iCell Gene Therapeutics
  中国研究中心 1 个：Chengdu
• 招募中NCT06544499
  A Study to Assess the Efficacy and Safety of Efgartigimod IV in Adult Participants With Primary Immune Thrombocytopenia
  III 期 · 干预性 · 2024/10/18argenx
  中国研究中心 11 个：Beijing、Bengbu、Chengde、Hohhot、Huai'an、Huizhou 等 10 地
• 招募中NCT06727669
  Longitudinal Cohort of Thrombosis and Hemostasis Diseases
  观察性 · 2024/11/01Peking University People's Hospital
  中国研究中心 5 个：Beijing、Chongqing、Zhengzhou
• 招募中NCT06888960
  Safety Study of CC312 in Autoimmune Disease Patients
  早期 I 期 · 干预性 · 2024/11/08CytoCares Inc
  中国研究中心 1 个：Tianjin
• 招募中NCT06794008
  BCMA-CD19 CAR-T Therapy for Refractory Autoimmune Diseases
  II 期 · 干预性 · 2024/12/26Peking University People's Hospital
  中国研究中心 1 个：Beijing
• 招募中NCT06776510
  A Clinical Study of NAD in the Treatment of Immune Thrombocytopenia
  I 期、II 期 · 干预性 · 2025/01/15Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT06722235
  A Study of Mezagitamab in Adults With Chronic Primary Immune Thrombocytopenia
  III 期 · 干预性 · 2025/02/27Takeda
  中国研究中心 16 个：Beijing、Chengdu、Guangzhou、Hangzhou、Jinan、Kunming 等 16 地
• 招募中NCT06826430
  Inaticabtagene Autoleucel Injection in the Treatment of Refractory Systemic Lupus Erythematosus-related Immune Thrombocytopenia
  I 期 · 干预性 · 2025/03/01Juventas Cell Therapy Ltd.
  中国研究中心 1 个：Beijing
• 招募中NCT06799611
  An Open, Exploratory Clinical Study of CM336 in the Treatment of Immune Thrombocytopenia
  II 期 · 干预性 · 2025/03/03Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT06880081
  Study of PN20 in Adult Patients With Primary Immune Thrombocytopenia (ITP)
  I 期 · 干预性 · 2025/03/07Chongqing Peg-Bio Biopharm Co., Ltd.
  中国研究中心 5 个：Guiyang、Jining、Kunming、Nanchang、Tianjin
• 尚未开始招募NCT06873672
  Validation of the EQ-5D-Y-3L and EQ-5D-Y-5L for Paediatric Patients in China
  观察性 · 2025/04/01RenJi Hospital
  中国研究中心 1 个：Guiyang

另有 39 项未列出。

中国境外的在招试验 141L2

CT.gov 报告命中 141 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07660172
  A Study of Ianalumab in Addition to Eltrombopag in Pediatric Patients With Primary ITP Who Failed Corticosteroids.
  II 期 · 干预性 · 2027/02/08Novartis Pharmaceuticals
• 尚未开始招募NCT07765966
  Phase 1 Dose Escalation Study of RXIM002 in Autoimmune Cytopenias
  I 期 · 干预性 · 2027/02/01RiboX Therapeutics Ltd.
• 尚未开始招募NCT07738822
  A Phase 1b/2a Study of Velinotamig in Adults With Relapsed/Refractory ITP and wAIHA
  I 期、II 期 · 干预性 · 2026/12Cullinan Therapeutics Inc.
  美国
• 尚未开始招募NCT07429942
  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
  观察性 · 2026/09/10Takeda
• 尚未开始招募NCT07798050
  Selective Mediterranean Diet in Immune Thrombocytopenia
  不适用 · 干预性 · 2026/09/01Assiut University
• 招募中NCT07700238
  A Study of Romiplostim Plus Predniso(lo)ne vs. Predniso(lo)ne Alone for the Treatment of Previously Untreated Primary Immune Thrombocytopenia (ITP)
  III 期 · 干预性 · 2026/08/21Amgen
  美国
• 招募中NCT07421167
  A Study to Assess the Tolerability of Ianalumab (VAY736) With Investigator's Choice Thrombopoietin Receptor Agonist (IC TPO-RA) in Patients With Primary Immune Thrombocytopenia (ITP)
  II 期 · 干预性 · 2026/08/04Novartis Pharmaceuticals
  美国
• 尚未开始招募NCT07669675
  TPO-RA Plus Baricitinib vs. TPO-RA for ITP
  II 期 · 干预性 · 2026/07/01Peking University People's Hospital
• 尚未开始招募NCT07680010
  Modeling the Early Stages of Autoimmunity Through the Study of Immunological Thrombocytopenic Purpura and Juvenile Lupus
  不适用 · 干预性 · 2026/07University Hospital, Bordeaux
  法国
• 招募中NCT07587723
  A Real-world Study of Treatment Patterns and Outcomes in Primary Immune Thrombocytopenia Patients Treated With Eltrombopag
  观察性 · 2026/06/25Novartis Pharmaceuticals
  瑞士
• 尚未开始招募NCT07622329
  A Clinical Study to Evaluate JCXH-213 in the Treatment of Adults With Primary Immune Thrombocytopenia
  I 期 · 干预性 · 2026/06/18The General Hospital of Western Theater Command
• 尚未开始招募NCT07574073
  CD20 Monoclonal Antibody Combined With BTK Inhibitor for the Treatment of Refractory Immune-related Cytopenia
  I 期 · 干预性 · 2026/06/01Qi deng
• 尚未开始招募NCT07476846
  rhTPO Dose Escalation vs Eltrombopag Switch in ITP
  不适用 · 干预性 · 2026/06Institute of Hematology & Blood Diseases Hospital, China
• 招募中NCT07549698
  Safety and Preliminary Efficacy of CTX112 in Adult Participants With Relapsed/Refractory Hematologic Autoimmune Disease
  I 期、II 期 · 干预性 · 2026/06CRISPR Therapeutics AG
  德国、西班牙、美国
• 尚未开始招募NCT07459114
  TGD001 Treatment in Thrombotic Microangiopathies
  I 期、II 期 · 干预性 · 2026/05/31TargED Biopharmaceuticals B.V.

外部标识与链接