AL型淀粉样变性
AL amyloidosis
定义 英文原文（暂无中文）
A clonal B-cell disorder characterized by the aggregation and deposition of insoluble amyloid fibrils derived from misfolding of monoclonal immunoglobulin light chains. It usually presents as systemic AL amyloidosis with involvement of one or more parenchymal organ(s) and, less frequently, as localized amyloidosis with usually nodular deposits restricted to a single organ and/or system.
别名
长链淀粉样变
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期
- 患病率
- 1-9 / 100 000（Germany）
临床表型 65
极常见 99–80%2
- 充血性心力衰竭 HP:0001635
- 疲乏 HP:0012378
常见 79–30%24
- 异常心电图 HP:0003115
- 房室传导异常 HP:0005150
- 肺间质形态异常 HP:0006530
- 味觉异常 HP:0000223
- 蛋白尿 HP:0012592
- 束支传导阻滞 HP:0011710
- QRS低电压 HP:0025077
- 勃起功能障碍 HP:0100639
- 肝淀粉样变性 HP:0012280
- 肥厚型心肌病 HP:0001639
- NT-proBNP水平增高 HP:0031185
- 循环抗体水平升高 HP:0010702
- 循环肌钙蛋白I浓度升高 HP:0410173
- 循环肌钙蛋白T浓度升高 HP:0410174
- 左心室肥厚 HP:0001712
- 吸收不良 HP:0002024
- 单克隆轻链心脏淀粉样变性 HP:0031326
- 肾性蛋白尿排泄增高 HP:0012593
- 肾病综合征 HP:0000100
- 眶周紫癜 HP:0025552
- 蛋白尿 HP:0000093
- 肾间质淀粉样蛋白沉积 HP:0032613
- 感觉运动神经病 HP:0007141
- 体重减轻 HP:0001824
偶见 29–5%33
- 腹胀 HP:0003270
- 异常P波 HP:0031595
- 自主神经系统生理功能异常 HP:0012332
- 心房形态异常 HP:0005120
- 心室形态异常 HP:0001713
- 唾液腺形态异常 HP:0010286
- 贫血 HP:0001903
- 主动脉瓣狭窄 HP:0001650
- 心律失常 HP:0011675
- Biceps tendon rupture HP:6001262 · 暂无中文
- 瘀斑易感性 HP:0000978
- 便秘 HP:0002019
- 压迫性正中神经病变 HP:0012185
- 腹泻 HP:0002014
- 呼吸困难 HP:0002094
- 碱性磷酸酶升高 HP:0003155
- 肝脏肿大 HP:0002240
- Howell-Jolly小体 HP:0032550
- 低蛋白血症 HP:0003073
- 颌跛行 HP:0030164
- 左心室舒张功能障碍 HP:0025168
- 干咳 HP:0031246
- 阻塞性睡眠呼吸暂停 HP:0002870
- 周围性水肿 HP:0012398
- 周围神经病 HP:0009830
- 体位性低血压伴代偿性心动过速 HP:0005307
- 肺间质高分辨率计算机断层扫描异常 HP:0025389
- 凝血因子X活性减低 HP:0008321
- 肾功能不全 HP:0000083
- 椎管狭窄 HP:0003416
- 心脏性猝死 HP:0001645
- 晕厥 HP:0001279
- 口腔干燥 HP:0000217
罕见 <4–1%5
- 吞咽困难 HP:0002015
- 胃肠道出血 HP:0002239
- 胃轻瘫 HP:0002578
- 声音嘶哑 HP:0001609
- 巨舌症 HP:0000158
排除 0%1
- 左心室射血分数降低 HP:0012664
近两年的全球研究 1,332L2
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。
- 2026-09病例报告Amyloid-Like Immunoglobulin Deposition Neuropathy
- 2026-08Limited duration of dexamethasone in newly diagnosed AL amyloidosis: impact on response, toxicity, and survival
- 2026-08Arterial-myocardial coupling in primary light chain amyloidosis: A prospective observational study of vascular involvement
- 2026-08病例报告Cardiac Tamponade From Lymphocytic Constrictive Pericarditis in Primary AL Amyloidosis Without Myocardial Involvement
- 2026-08综述Efficacy and tolerability of sodium-glucose cotransporter-2 inhibitors in transthyretin amyloid cardiomyopathy: A systematic review and stratified meta-analysis
- 2026-08Prevalence and Determinants of Asymmetric Septal Hypertrophy (ASH) in Diseases of Left Ventricular Hypertrophy (LVH)
- 2026-08Role of FibroScan in evaluating hepatic involvement in systemic amyloidosis: a single-centre prospective pilot study
- 2026-08The light chain hunt: appraising assays in AL amyloidosis
- 2026-08综述[Laboratory investigations to rule out AL amyloidosis: practical guidance for the cardiologist]
- 2026-08荟萃分析系统综述Diagnostic utility of immunofixation and free light chain assay in AL amyloidosis: a systematic review and meta-analysis
- 2026-071F10, a λ Light Chain Amyloid-Specific Monoclonal Antibody for Targeted Therapy of AL Amyloidosis
- 2026-07Evaluation of CD68<sup>+</sup> macrophages in relation to kidney outcomes in immunoglobulin light-chain amyloidosis
- 2026-07Efficacy and Safety of BCMA-Targeted Therapies in Relapsed or Refractory AL Amyloidosis: A Descriptive Pooled Analysis
- 2026-07病例报告Histopathological improvement in kidney AL amyloid deposits following daratumumab-based chemotherapy and autologous peripheral blood stem cell transplantation: a case report
- 2026-07综述Imaging Advances in Light Chain Amyloidosis
- 2026-07What's liver got to do with it? Hepatic response and survival in AL amyloidosis
- 2026-07A Clinically Applicable Conversion Formula between NT-proBNP and BNP in Light-Chain Amyloidosis
- 2026-07Spontaneous Acute Left-Sided Abdominal Pain in a Patient With AL Amyloidosis
- 2026-07病例报告Recurrent Pleural Effusion and Grade 3 Pyrophosphate Uptake in Cardiac Immunoglobulin Light Chain (AL) Amyloidosis: A Transthyretin Amyloidosis (ATTR) Phenocopy
- 2026-07综述Systemic light chain and transthyretin amyloidosis-treatment advancements and future directions
境外已获批用于本病的药物 1L2
欧盟 0 项、美国 1 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。
- Darzalex Faspro美国2021-01-15daratumumab and hyaluronidase-fihj官方记录
已获孤儿药资格、尚未获批的在研药物（14 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。
- Humanised IgG1 kappa antibody against serum amyloid A and AL amyloid欧盟2013-02-08Treatment of amyloid light-chain amyloidosis官方记录
- chimeric fibril-reactive IgG1k monoclonal antibody 11-1F4欧盟2019-11-13Treatment of AL amyloidosis官方记录
- florbetaben (18F)欧盟2020-04-22Diagnosis of AL amyloidosis官方记录
- Iodine (124I) evuzamitide欧盟2022-11-11Diagnosis of AL amyloidosis官方记录
- bortezomib欧盟2023-11-08Treatment of patients with light chain (AL) amyloidosis官方记录
- autologous CD3-positive T-cells expressing a chimeric antigen receptor欧盟2024-02-19Treatment of AL amyloidosis官方记录
- Humanised IgG1 monoclonal antibody against misfolded immunoglobulin G,欧盟Treatment of AL amyloidosis官方记录
- monoclonal antibody 11-1F4美国2009-12-11For use as a therapeutic agent for patients AL amyloidosis.官方记录
- birtamimab美国2012-02-17Treatment of AA amyloidosis and AL amyloidosis官方记录
- N-(3,4-dihydroxyphenyl)-3,4-dihydroxybenzamide美国2014-10-15Treatment of AL Amyloidosis官方记录
- florbetaben F18美国2020-04-07Diagnostic for the management of amyloid light chain (AL) amyloidosis官方记录
- Iodine (I124) evuzamitide美国2022-11-14Diagnostic for the management of immunoglobulin light chain amyloidosis官方记录
- Autologous T cells expressing anti-B cell maturation agent chimeric an美国2023-09-19Treatment of amyloid light chain (AL) amyloidosis官方记录
- revlucabtagene autoleucel美国2025-12-02treatment of amyloid light chain 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 43L2
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 28
- 仅邀请入组NCT04210791Autologous Stem Cell Transplantation for Patients With AL Amyloidosis中国研究中心 1 个：Nanjing
- 招募中NCT04924998Clinical Study for AL-CM中国研究中心 1 个：Hangzhou
- 招募中NCT06376214Daratumumab for Patients With Light Chain Amyloidosis中国研究中心 1 个：Nanjing
- 招募中NCT06192979Optimize First-line Treatment for AL Amyloidosis With t (11; 14)中国研究中心 7 个：Beijing、Nanjing、Qingdao、Xi’an
- 招募中NCT06342466Bortezomib, Pomalidomide, Dexamethasone for Systemic AL Amyloidosis中国研究中心 1 个：Beijing
- 招募中NCT06418477Daratumumab, Bortezomib, Cyclophosphamide, and Dexamethasone Therapy for Patients with MIDD中国研究中心 3 个：Beijing、Guangzhou
- 招募中NCT06803082The Impact of Systemic Light Chain Amyloidosis on Eyes中国研究中心 1 个：Guangzhou
- 招募中NCT06627309Rapid dFLC Response Predict CHR in AL Amyloidosis中国研究中心 8 个：Beijing、Harbin、Nanjing、Shenyang、Xi'an
- 招募中NCT07626476Autologous BCMA-targeted CAR-T Cell Injection for Relapsed/Refractory Light Chain Amyloidosis中国研究中心 1 个：Beijing
- 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NCT06983951Exploratory Clinical Study on the Safety and Efficacy of Targeted BCMA Autologous CART Cell Injection in Subjects With Recurrent/Refractory Light Chain Amyloidosis中国研究中心 1 个：Beijing
- 招募中NCT06998875A Prospective Cohort Study on Primary Cutaneous Amyloidosis中国研究中心 1 个：Chongqing
- 招募中NCT06699394Prospective Study of Teclistamab in the Treatment of Systemic AL Amyloidosis中国研究中心 2 个：Beijing
- 招募中NCT06935162Teclistamab in Previously Treated AL Amyloidosis中国研究中心 1 个：Beijing
- 招募中NCT07085559Safety and Efficacy of Metabolically Armed BCMA CAR-T Cells (Meta10-BCMA) in the Treatment of r/r Plasma Cell Neoplasms Clinical Research中国研究中心 1 个：Hefei
- 招募中NCT07079423Teclistamab in Newly Diagnosed Mayo Stage IIIB AL Amyloidosis中国研究中心 1 个：Beijing
- 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NCT07039578Study Evaluating the Efficacy and Safety of CM336 Injection in the Treatment of Light-Chain Amyloidosis中国研究中心 2 个：Beijing、Tianjin
- 招募中NCT07151690BCMA/CD3 Bispecific Antibody Treatment for Newly Diagnosed Amyloidosis中国研究中心 1 个：Tianjin
- 尚未开始招募NCT07215494A Clinical Study on Minimal Residual Disease in Patients With Systemic Light Chain Amyloidosis中国研究中心 1 个：Beijing
- 招募中NCT07250269Study of GC012F, CAR-T Therapy Targeting CD19 and BCMA in Chinese Participants With Relapsed or Refractory AL Amyloidosis中国研究中心 7 个：Beijing、Changchun、Guangzhou、Hangzhou、Suzhou、Wenzhou 等 7 地
- 招募中NCT07266116Assessment of the Efficacy and Safety of Injectable TQB2934 (Subcutaneous Injection) in Systemic Light Chain Amyloidosis Patients中国研究中心 25 个：Anyang、Baoding、Beijing、Changchun、Chengdu、Chongqing 等 20 地
- 招募中NCT07388602A Study to Evaluate the Safety and Efficacy of SCTC21C in Combination With Bortezomib, Cyclophosphamide, and Dexamethasone in Patients With Newly Diagnosed Systemic Light-Chain Amyloidosis (NDSLCA)中国研究中心 1 个：Beijing
- 招募中NCT07335887Sonrotoclax Plus Dexamethasone With or Without Daratumumab Regimen in Patients With t(11;14) Primary AL Amyloidosis中国研究中心 3 个：Beijing、Xi'an
- 招募中NCT07638683A Phase II Study to Evaluate the Efficacy and Safety of Teclistamab in Combination With Daratumumab (Tec-Dara) in Newly Diagnosed Multiple Myeloma With Concurrent Light Chain Amyloidosis (MM+AL).中国研究中心 1 个：Shanghai
另有 3 项未列出。
其他状态的试验（15 项）
- 已完成NCT01998503Bortezomib and Dexamethasone Followed by ASCT Compared With ASCT Alone in Treating Patients With AL Amyloidosis中国研究中心 1 个：Nanjing
- 已完成NCT01273844Study of Bortezomib +HSCT in Primary Systemic Amyloidosis (AL)中国研究中心 1 个：Suzhou
- 已完成NCT03201965A Study to Evaluate the Efficacy and Safety of Daratumumab in Combination With Cyclophosphamide, Bortezomib and Dexamethasone (CyBorD) Compared to CyBorD Alone in Newly Diagnosed Systemic Amyloid Light-chain (AL) Amyloidosis中国研究中心 5 个：Beijing、Hangzhou、Shanghai、Wenzhou
- 已完成NCT03401372BCD With or Without Doxycycline in Mayo Stage II-III Light Chain Amyloidosis Patients中国研究中心 1 个：Beijing
- 状态未知NCT04006223The Diagnostic Value of Hybrid PET/MR for Systemic Amyloidosis中国研究中心 1 个：Wuhan
- 状态未知NCT04612582Comparison of BTD and BCD Based Regimens in the Treatment of AL Amyloidosis中国研究中心 1 个：Guangzhou
- 进行中·不再招募NCT04504825A Study to Evaluate the Efficacy and Safety of CAEL-101 in Patients With Mayo Stage IIIb AL Amyloidosis (CARES)中国研究中心 5 个：Beijing、Guangzhou、Hangzhou、Wenzhou、Wuhan
- 进行中·不再招募NCT04512235A Study to Evaluate the Efficacy and Safety of CAEL-101 in Patients With Mayo Stage IIIa AL Amyloidosis (CARES)中国研究中心 7 个：Beijing、Guangzhou、Hangzhou、Shanghai、Suzhou、Wenzhou 等 7 地
- 状态未知NCT04474938Daratumumab Combined With Bortezomib and Dexamethasone in Mayo 04 Stage III Light Chain Amyloidosis中国研究中心 1 个：Beijing
- 进行中·不再招募NCT05250973A Study of Daratumumab-Based Therapies in Participants With Amyloid Light Chain (AL) Amyloidosis中国研究中心 5 个：Beijing、Chengdu、Hangzhou、Shanghai
- 状态未知NCT05277493A Registry of Chinese AL Amyloidosis Patients Treated With Subcutaneous or Intravenous Daratumumab中国研究中心 1 个：Beijing
- 状态未知NCT05978661FKC288 for Relapsed or Refractory Systemic Light Chain (AL) Amyloidosis中国研究中心 1 个：Nanjing
- 进行中·不再招募NCT05996406Venetoclax and Dexamethasone for Newly Diagnosed Light-Chain Amyloidosis with Translocation (11;14)中国研究中心 1 个：Beijing
- 状态未知NCT06455748Daratumumab/Daratumumab and Hyaluronidase-fihj in Combination With Pomalidomide and Dexamethasone for the Treatment of Patients With Newly Diagnosed AL Amyloidosis: a Prospective, Multicenter, Single-arm Study中国研究中心 1 个：Wenzhou
- 进行中·不再招募NCT06629818Daratumumab Combined With Venetoclax and Dexamethasone for Newly Diagnosed Light-Chain Amyloidosis With Translocation (11;14)中国研究中心 1 个：Beijing
中国境外的在招试验 64L2
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20意大利8西班牙4英国4法国3比利时3日本3荷兰3瑞士2澳大利亚2希腊2德国2匈牙利1加拿大1另有 6 个国家/地区
CT.gov 报告命中 64 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07709715A Randomized Phase 3 Study to Evaluate the Efficacy and Safety of NXC-201 Compared With Daratumumab With Cyclophosphamide, Bortezomib and Dexamethasone (CyBorD) in Newly Diagnosed Systemic AL Amyloidosis
- 尚未开始招募NCT07624760Early Detection of Amyloidosis in Monoclonal Gammopathy Using Nuclear Medicine Imaging瑞士
- 尚未开始招募NCT07524634Dose Schedule Study of BCMA Bispecific Antibody, Elranatamab, for Newly Diagnosed Immunoglobulin Light Chain (AL) Amyloidosis美国
- 尚未开始招募NCT07615270A Pilot Study of Anselamimab in Patients With AL Amyloidoma and Measurable Tissue Involvement美国
- 招募中NCT07224672A Study to Evaluate the Efficacy and Safety of Belantamab Mafodotin in Combination With Cyclophosphamide, Bortezomib, and Dexamethasone in Adult Participants With Newly Diagnosed Amyloid Light Chain (AL) Amyloidosis澳大利亚、美国
- 招募中NCT06971848Evaluation of Skin Tests in Biotherapy Allergies法国
- 尚未开始招募NCT07521722DIV-AD BARCELONA: Alzheimer's Blood-Based Biomakers for a Diverse Community西班牙
- 招募中NCT07689331Hungarian National Systemic Amyloidosis Registry匈牙利
- 招募中NCT07448935One Gene, Two Diseases: the Pathologic Role of IGLV1-44 in AL Amyloidosis and POEMS意大利
- 招募中NCT07448779Investigating the Pathogenic Role of N-glycosylation in AL Amyloidosis: Molecular Bases, Diagnosis, and Treatment意大利
- 招募中NCT07110844Teclistamab-Daratumumab in AL Amyloidosis美国
- 招募中NCT07172243BE.Amycon Biobank & Data Registry UZ Leuven比利时
- 尚未开始招募NCT07143864Efficacy and Safety of Stapokibart for Primary Cutaneous Amyloidosis
- 招募中NCT07081646A Phase 1b/2 Study of CAR T Cell Therapy Targeting CD19 and BCMA in Participants With Relapsed or Refractory AL Amyloidosis.加拿大、英国、美国
- 尚未开始招募NCT07055724Study of Eque-cel CAR-T Therapy in Newly Diagnosed Severe AL Amyloidosis
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）