遗传性ATTR淀粉样变性
Hereditary ATTR amyloidosis
定义 英文原文（暂无中文）
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
别名
家族性转甲状腺素蛋白相关淀粉样变性
基本事实
- 遗传方式
- 常染色体显性
- 患病率
- 1-9 / 1 000 000（Greece）
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。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| TTR | transthyretin | ORPHA:85451 |
临床表型 44
常见 79–30%22
- 自主神经系统生理功能异常 HP:0012332
- 无汗症 HP:0000970
- 心律失常 HP:0011675
- 充血性心力衰竭 HP:0001635
- 便秘 HP:0002019
- 压迫性正中神经病变 HP:0012185
- 腹泻 HP:0002014
- 胃轻瘫 HP:0002578
- 青光眼 HP:0000501
- 心脏传导阻滞 HP:0012722
- 阳痿 HP:0000802
- 干燥性角结膜炎 HP:0001097
- 左心室肥厚 HP:0001712
- 恶心和呕吐 HP:0002017
- 肾病 HP:0000112
- 自主神经功能障碍性体位性低血压 HP:0004926
- 限制型心肌病 HP:0001723
- 感觉运动神经病 HP:0007141
- 骨骼肌萎缩 HP:0003202
- 甲状腺素转运蛋白心脏淀粉样变性 HP:0031327
- 尿潴留 HP:0000016
- 玻璃体漂浮物 HP:0100832
偶见 29–5%21
- 瞳孔形状异常 HP:0025309
- 肢端感觉障碍 HP:0031006
- 主动脉瓣狭窄 HP:0001650
- 心房纤颤 HP:0005110
- 脑淀粉样血管病 HP:0011970
- QRS低电压 HP:0025077
- 疲乏 HP:0012378
- 足背屈无力 HP:0009027
- 感觉迟钝 HP:0033748
- 温度觉障碍 HP:0010829
- NT-proBNP水平增高 HP:0031185
- 循环肌钙蛋白T浓度升高 HP:0410174
- 腰椎管狭窄 HP:0004610
- 肌无力 HP:0001324
- 肾病综合征 HP:0000100
- 疼痛 HP:0012531
- 肾功能不全 HP:0000083
- 心脏性猝死 HP:0001645
- 肌腱断裂 HP:0100550
- 体重减轻 HP:0001824
- 垂腕 HP:0031189
排除 0%1
- 左心室射血分数降低 HP:0012664
近两年的全球研究 96L2
2024/08 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。
- 2026-07病例报告Hereditary Transthyretin Amyloidosis: When Medicine Uncovers a Little-Known Chapter of Canadian History
- 2026-07综述Guidelines for the management of hereditary ATTR amyloidosis 2026
- 2026-06Tenosynovial and Transverse Carpal Ligament Biopsy for Early Transthyretin Amyloidosis Cardiomyopathy Detection: A Systematic Review and African American Retrospective Cohort Study
- 2026-06开放获取Tenosynovial and Transverse Carpal Ligament Biopsy for Early Transthyretin Amyloidosis Cardiomyopathy Detection: A Systematic Review and African American Retrospective Cohort Study
- 2026-06综述开放获取Small Hearts, Big Clues: A Narrative Review on Sex-Related Disparities in the Diagnosis and Management of Cardiac Amyloidosis in Women
- 2026-05开放获取Contemporary Description of Clinical Characteristics and Outcomes in Patients with Hereditary ATTR Amyloidosis: Results from the Multicountry OverTTuRe Study
- 2026-05病例报告开放获取Pathogenic Characterization of a Novel G47R Transthyretin Mutation in Early-Onset Amyloid Cardiomyopathy
- 2026-05Sensitivity of Nerve and Skin Biopsy and Fat Aspirate for Amyloid in Symptomatic Hereditary ATTR Amyloidosis With Peripheral Neuropathy
- 2026-04综述开放获取Interpretation of cardiac magnetic resonance imaging of left ventricular hypertrophy: a practical guide
- 2026-04综述开放获取DNA and RNA editing for the therapy of human diseases: current status, challenges, and future prospects
- 2026-04综述开放获取CRISPR and the Future of Cardiac Disease Therapy: A New Genetic Frontier
- 2026-03综述开放获取Multimodal Imaging for Monitoring of Disease Progression in Cardiac Amyloidosis: Advances and Gaps in Evidence
- 2026-03综述开放获取Patient organizations involvement in healthcare: a rapid review and conceptual framework
- 2026-03综述开放获取Exploring the MicroRNA Landscape in Cardiac Amyloidosis: Molecular Insights and Clinical Applications
- 2026-03开放获取Pulmonary amyloidosis: clinicopathologic spectrum and diagnostic pitfalls in a 12-patient case series
- 2026-02综述病例报告开放获取Concurrence of renal amyloidosis and membranous nephropathy: a case series and literature review
- 2026-02开放获取Setting up an autonomic unit within the neurological department: a position statement of the European Federation of Autonomic Societies
- 2026-02开放获取Pittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study
- 2026-02综述开放获取Association Between Common Variable Immunodeficiency and Pulmonary Amyloidosis: Review
- 2026-02综述开放获取Extracellular Vesicles in Cardiac Amyloidosis: From Pathogenesis to Clinical Applications
国家医保药品目录中点名本病的药品 1L2
出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 氯苯唑酸软胶囊乙类谈判药品限成人野生型或遗传型转甲状腺素蛋白淀粉样变性心肌病(ATTR-CM)。
境外已获批用于本病的药物 5L2
欧盟 3 项、美国 2 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Vyndaqel欧盟2011-11-16tafamidis官方记录
- Tegsedi欧盟2018-07-06inotersen官方记录
- Beyonttra欧盟2025-02-10acoramidis官方记录
- TEGSEDI美国2018-10-05Inotersen官方记录
- Attruby美国2024-11-22acoramidis官方记录
已获孤儿药资格、尚未获批的在研药物（6 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Tolcapone美国2013-12-24Treatment of transthyretin amyloidosis官方记录
- clustered regularly interspaced short palindromic repeats CRISPR/ Cas9美国2021-10-19Treatment of transthyretin amyloidosis官方记录
- Iodine (I-124) evuzamitide美国2022-07-26Diagnostic for the management of transthyretin amyloidosis官方记录
- recombinant human anti-ATTR-immunoglobulin G1 monoclonal antibody美国2023-10-02Treatment of transthyretin amyloidosis官方记录
- coramitug美国2024-09-23treatment of transthyretin amyloidosis官方记录
- small interfering ribonucleic acid -GalNAc conjugate targeting the tra美国2025-06-05treatment of transthyretin amyloidosis (ATTR amyloidosis)官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。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 20L2
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 10
- 招募中NCT07336394Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques中国研究中心 1 个：Beijing
- 招募中NCT07130565Pan-Amyloid PET/CT in Various Amyloid-Related Disease中国研究中心 2 个：Hefei、Tianjin
- 招募中NCT06082050Efficacy and Safety of Intravenous YOLT-201 for Transthyretin Amyloidosis Cardiomyopathy中国研究中心 1 个：Hangzhou
- 招募中NCT06539208A Phase I/IIa，Open-label, Single Ascending Dose and Dose-expansion Clinical Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of YOLT-201 in Patients With Transthyretin Amyloidosis Polyneuropathy (ATTR-PN) or Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)中国研究中心 3 个：Beijing、Changsha、Hanzhou
- 招募中NCT06465810Non-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis中国研究中心 19 个：Beijing、Changsha、Chengdu、Chongqing、Dalian、Fuzhou 等 19 地
- 仅邀请入组NCT07103863Multimodal Radiomics Model (18F-FAPI PET/CT + CMR) for AL Cardiac Amyloidosis Prognosis中国研究中心 1 个：Beijing
- 招募中NCT06940336To Evaluate the Efficacy and Safety of Tafamidis Meglumine Soft Capsules in the Treatment of Adult Patients With Transthyretin Amyloid Polyneuropathy中国研究中心 1 个：Jinan
- 招募中NCT07052903TRITON-CM: A Study to Evaluate Nucresiran in Patients With Transthyretin Amyloidosis With Cardiomyopathy中国研究中心 12 个：Binhai、Changsha、Dongcheng、Fuzhou、Haidian、Hangzhou 等 12 地
- 招募中NCT07232459[18F]FT8 PET Imaging in Immunoglobulin Light Chain Amyloidosis中国研究中心 2 个：Hefei、Tianjin
- 招募中NCT07207811CLEOPATTRA: A Research Study to Look at the Effects of Treatment With a Medicine Called Coramitug (NNC6019-0001) in People With Heart Failure Due to Transthyretin Amyloid (ATTR) Amyloidosis中国研究中心 32 个：Beijing、Binhai、Changchun、Changsha、Chongqing、Fuzhou 等 22 地
其他状态的试验（10 项）
- 已完成NCT04828993The Effect Of Tafamidis Meglumine In Transthyretin Amyloid Polyneuropathy Patients中国研究中心 8 个：Beijing、Fuzhou、Guangzhou、Shanghai
- 状态未知NCT04963985The Effect of Tafamidis on Transthyretin Stabilization, Safety, Tolerability and Efficacy in Transthyretin Amyloid Polyneuropathy Patients中国研究中心 1 个：Beijin
- 已完成NCT04814186A Study to Assess the Safety and Efficacy Of Tafamidis In Chinese Participants With Transthyretin Amyloid Cardiomyopathy (ATTR-CM)中国研究中心 9 个：Beijing、Changsha、Chengdu、Dalian、Hangzhou、Shanghai 等 7 地
- 状态未知NCT05718401The Diagnostic Pattern and Prognosis of Multiple Myeloma Patients With Myocardial Amyloidosis Were Evaluated by NMR Based Metabolomics中国研究中心 1 个：Xi’an
- 状态未知NCT05719337Multi-Modality Echocardiographic Techniques in Pathological Left Ventricular Hypertrophy Adults中国研究中心 22 个：Anshan、Benxi、Chaoyang、Dalian、Dandong、Fushun 等 15 地
- 进行中·不再招募NCT06194825EPIC-ATTR: A Study to Evaluate the Effect of Eplontersen on the Transthyretin Reduction and Long-term Safety in Chinese Subjects With Transthyretin Amyloid Cardiomyopathy中国研究中心 14 个：Beijing、Changsha、Chengdu、Chongqing、Guangzhou、Hangzhou 等 14 地
- 进行中·不再招募NCT06183931Study of ALXN2220 Versus Placebo in Adults With ATTR-CM中国研究中心 16 个：Beijing、Changsha、Chengdu、Chongqing、Fuzhou、Guangzhou 等 16 地
- 已完成NCT06527755A Study to Assess the PK, PD, Safety and Tolerability of Eplontersen in Healthy Chinese Volunteers中国研究中心 1 个：Beijing
- 进行中·不再招募NCT07338942Implementation of Standardized Early Identification and Diagnosis for Transthyretin Amyloidosis (ATTR) in High-Risk Populations中国研究中心 28 个：Beijing、Changlexi、Changsha、Chengdu、Chongqing、Dalian 等 28 地
- 进行中·不再招募NCT07608354A Study to Evaluate the Efficacy and Safety of Concomitant Use of Eplontersen and ALXN2220 Compared With Eplontersen and Placebo for Adults Participants With ATTR-CM中国研究中心 5 个：Beijing、Changsha、Chongqing、Guangzhou、Hangzhou
中国境外的在招试验 113L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国30德国19意大利19法国16葡萄牙8西班牙8荷兰8比利时7丹麦7韩国6巴西6中国台湾6日本5阿根廷5另有 21 个国家/地区
CT.gov 报告命中 113 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07116473To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
- 尚未开始招募NCT07654855Long-term Safety of Eplontersen Treated aTTR Patients and in Liver Transplant and Severely Hepatic Impaired Subpopulations
- 尚未开始招募NCT06921408Retrospective Identification of Scintigraphic Cardiac Amyloidosis (RISCA)
- 尚未开始招募NCT07734285Detection of Cardiac Amyloidosis Using Right Ventricular Sensing Amplitude in Patients With Left Ventricular Hypertrophy
- 尚未开始招募NCT05974644Southeastern ATTR Amyloidosis Consortium: SEATTRAC Family Registry美国
- 尚未开始招募NCT07549841Exploratory Study Evaluating the Relevance of [68Ga]Ga-FAPI-46 for Staging and Identifying Progressing Patients With Transthyretin Cardiac Amyloidosis法国
- 尚未开始招募NCT07557147Single-arm, Multi-center Study Evaluating the Acceptance and Feasibility of a Digital Remote Monitoring Tool Configured for Patients With ATTR-CM: ACO-Monitor奥地利、德国、意大利
- 尚未开始招募NCT07591038PET/CT Imaging in Carriers of TTR Mutations美国
- 尚未开始招募NCT07743957Selinexor, Daratumumab, and Dexamethasone (XDd) for Light-Chain Cardiac Amyloidosis
- 招募中NCT07560306[64Cu]FBP8 PET for Early Detection of Intracardiac Thrombus in Amyloid Cardiomyopathy美国
- 尚未开始招募NCT07690436Retinal Fundus Imaging and OCT Imaging for Ocular Detection of ATTR-CM德国、葡萄牙、西班牙、美国
- 尚未开始招募NCT07529860AI-based Echocardiography for Detection of Cardiac Amyloidosis
- 招募中NCT07695701Cardiac Magnetic Resonance and Echocardiography Study With Acoramidis美国
- 尚未开始招募NCT07648303Prevalence of Cardiac Thrombi in Cardiac Amyloidosis法国
- 尚未开始招募NCT07580872Early Screening for Cardiac Amyloid Using a History of Bilateral Carpal Tunnel Syndrome
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）