法布里病
Fabry disease
定义 英文原文（暂无中文）
A rare genetic, multisystemic lysosomal disease characterized by specific cutaneous (angiokeratoma), neurological (pain), renal (proteinuria, chronic kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular manifestations (transient ischemic attacks, strokes). The phenotypic expression depends on age of onset and, in females, the level of X-inactivation.
别名
α-半乳糖苷酶A缺乏症
基本事实
- 遗传方式
- X 连锁显性、X 连锁隐性
- 发病年龄
- 青少年期、成年期、儿童期
- 患病率
- 1-9 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| GLA | galactosidase alpha | Disease-causing germline mutation(s) in |
临床表型 76
极常见 99–80%25
- 腹痛 HP:0002027
- 鞘糖脂代谢异常 HP:0004343
- 贫血 HP:0001903
- 血管角皮瘤 HP:0001014
- 关节疼痛 HP:0002829
- 关节炎 HP:0001369
- 充血性心力衰竭 HP:0001635
- 结膜毛细血管扩张 HP:0000524
- 角膜营养不良 HP:0001131
- 角膜混浊 HP:0007957
- α-半乳糖苷酶 A 活性降低 HP:0034864
- 循环中神经酰胺三己糖苷浓度升高 HP:0033595
- 疲乏 HP:0012378
- 听力受损 HP:0000365
- 血尿 HP:0000790
- 角化过度 HP:0000962
- 少汗症 HP:0000966
- 吸收不良 HP:0002024
- 粘膜毛细血管扩张 HP:0100579
- 肌痛 HP:0003326
- 肾病综合征 HP:0000100
- 肾功能不全 HP:0000083
- 皮下结节 HP:0001482
- 皮肤毛细血管扩张 HP:0100585
- 短暂性脑缺血发作 HP:0002326
常见 79–30%26
- 主动脉瓣形态异常 HP:0001646
- 脂代谢异常 HP:0003119
- 肾小管形态异常 HP:0000091
- 肢端感觉障碍 HP:0031006
- 厌食症 HP:0002039
- 房室传导阻滞 HP:0001678
- 非典型行为 HP:0000708
- 束支传导阻滞 HP:0011710
- 白内障 HP:0000518
- 慢性疼痛 HP:0012532
- 面容粗糙 HP:0000280
- 认知功能损害 HP:0100543
- 角膜涡状营养不良 HP:0500008
- 青春期发育延迟 HP:0000823
- 气肿 HP:0002097
- 运动不耐受 HP:0003546
- 不耐热 HP:0002046
- 高脂血症 HP:0003077
- 二尖瓣反流 HP:0001653
- 恶心和呕吐 HP:0002017
- 肾病 HP:0000112
- 视神经萎缩 HP:0000648
- 蛋白尿 HP:0000093
- 身材矮小 HP:0004322
- 厚下红唇 HP:0000179
- 耳鸣 HP:0000360
偶见 29–5%24
- 心肌形态异常 HP:0001637
- 股骨形态异常 HP:0002823
- 心内膜形态异常 HP:0004306
- 贲门失弛缓症 HP:0002571
- 心绞痛 HP:0001681
- 焦虑 HP:0000739
- 心律失常 HP:0011675
- 慢性阻塞性肺疾病 HP:0006510
- 抑郁 HP:0000716
- 发育倒退 HP:0002376
- 尿崩症 HP:0000873
- 呼吸困难 HP:0002094
- 发热 HP:0001945
- 肾小球病 HP:0100820
- 高血压 HP:0000822
- 肥厚型心肌病 HP:0001639
- 左心室肥厚 HP:0001712
- 淋巴水肿 HP:0001004
- 骨密度降低 HP:0004349
- 呼吸功能不全 HP:0002093
- 癫痫发作 HP:0001250
- 感音神经性听力受损 HP:0000407
- 卒中 HP:0001297
- 眩晕 HP:0002321
罕见 <4–1%1
- 多汗症 HP:0000975
近两年的全球研究 1,783L2
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。
- 2026-08综述Pain in Fabry disease: do experimental models reveal novel therapeutic targets?
- 2026-08Unraveling A4GALT Mechanism and Its Modulation With Adamantyl-Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies
- 2026-08Response to "Comment on 'Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease"'
- 2026-08Paradoxical Apparent Native T1 Elevation in Triglyceride Deposit Cardiomyovasculopathy: A Pitfall in Contrast With Fabry Disease
- 2026-08Prevalence and Determinants of Asymmetric Septal Hypertrophy (ASH) in Diseases of Left Ventricular Hypertrophy (LVH)
- 2026-08Myocardial inflammation and scar expansion in patients with Anderson-Fabry disease
- 2026-08Beyond Wall Thickness: Phenotype-Guided Diagnosis of Left Ventricular Hypertrophy
- 2026-07Comment on "Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease"
- 2026-07The origin and three-dimensional structure of urinary mulberry bodies in fabry disease
- 2026-07Neuro-otological findings in fabry disease: prominent oculomotor dysfunction and selective vestibular involvement
- 2026-07Bridging Biochemical and Clinical Disease Burden in Fabry Disease: A Comparative Analysis of Lyso-Gb3, MSSI, DS3, and FASTEX
- 2026-07Generation of human induced pluripotent stem cell line MHHi040-A from a female Fabry disease patient carrying c.644A>G missense mutation
- 2026-07综述Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy
- 2026-07综述Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review
- 2026-07综述Fabry disease cardiomyopathy: Time for a closer heart rhythm monitoring?
- 2026-07Genotype analysis of Fabry disease in a Spanish at-risk population reveals 10 novel GLA variants
- 2026-07Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases
- 2026-07Generation of a human-induced pluripotent stem cell (hiPSC) line as a cellular model of Fabry disease from a patient carrying the p.A143T variant in the GLA gene (AOUMEYi005-A)
- 2026-07ECG parameters to detect cardiac involvement in Fabry disease
- 2026-07综述Expert opinion on the conceptual, clinical and therapeutic aspects of Fabry nephropathy: A nephrologists' perspective
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。
- 阿加糖酶α注射用浓溶液乙类谈判药品限法布雷病(α-半乳糖苷酶A缺乏症)患者的长期酶替代治疗，适用于成人、儿童和青少年。尚未确定本品在0-6岁儿童中的安全性和有效性。
境外已获批用于本病的药物 5L2
欧盟 4 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。
- Fabrazyme欧盟2001-08-03agalsidase beta官方记录
- Replagal欧盟2001-08-03agalsidase alfa官方记录
- Galafold欧盟2016-05-25migalastat官方记录
- Elfabrio欧盟2023-05-04pegunigalsidase alfa官方记录
- GALAFOLD美国2018-08-10migalastat hydrochloride官方记录
已获孤儿药资格、尚未获批的在研药物（18 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。
- N-butyldeoxygalactonojirimycin欧盟2012-08-09Treatment of Fabry disease官方记录
- adeno-associated viral vector serotype 8 containing the human alpha-ga欧盟2017-03-20Treatment of Fabry disease官方记录
- adeno-associated virus serotype 2/6 encoding human alpha-galactosidase欧盟2020-01-09Treatment of Fabry disease官方记录
- Adeno-associated viral vector serotype S3 encoding human alpha-galacto欧盟2020-02-28Treatment of Fabry disease官方记录
- alpha galactosidase A欧盟2021-01-06Treatment of Fabry disease官方记录
- Alpha-galactosidase A美国1991-06-17Treatment of alpha-galactosidase A deficiency (Fabry's disease).官方记录
- lucerastat美国2015-10-29Treatment of Fabry Disease.官方记录
- adeno-associated virus serotype 2/6 encoding a human alpha-galactosida美国2019-10-21Treatment of Fabry Disease官方记录
- Adeno-Associated Virus Serotype 2 capsid variant (4D-C102) carrying a 美国2020-03-09Treatment of Fabry Disease官方记录
- Recombinant adeno-associated viral vector serotype S3 containing DNA e美国2020-04-22Treatment of Fabry disease官方记录
- N-[(1R,2R)-2-(3-chloro-4-cyclopropoxyphenyl)-2-hydroxy-1-(pyrrolidinyl美国2022-09-01Treatment of Fabry disease官方记录
- a recombinant adeno-associated virus (AAV) vector that contains a bioe美国2023-08-11Treatment of Fabry disease官方记录
- autologous B cells engineered to secrete intact alpha-galactosidase A 美国2023-09-19Treatment of Fabry disease官方记录
- Recombinant adeno-associated virus vector serotype 5 (AAV5) harboring 美国2024-02-15Treatment of Fabry Disease官方记录
- recombinant human alpha-galactosidase A fused in-frame to the aglycosy美国2024-05-24treatment of Fabry disease官方记录
- adeno-associated viral vector serotype 5 encoding human alpha-galactos美国2024-09-19treatment of Fabry disease官方记录
- non-replicating, rep/cap-deleted, recombinant adeno-associated virus v美国2024-11-04treatment of Fabry disease官方记录
- CD34+ hematopoietic stem/progenitor cells transduced with a lentiviral美国2026-03-08treatment of Fabry disease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 15L2
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 7
- 招募中NCT00196742Fabry Disease Registry & Pregnancy Sub-registry中国研究中心 6 个：Beijing、Hangzhou、Jinan、Nanjing、Shanghai
- 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NCT06207552Evaluation of the Safety, Tolerability and Efficacy of a Gene Therapy Drug for the Treatment of Pediatric Fabry Disease中国研究中心 1 个：Shanghai
- 招募中NCT06539624Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease中国研究中心 2 个：Hangzhou、Shanghai
- 招募中NCT06512571CVI Alterations in FD: a Prospective, Multicenter, Observational Cohort Study中国研究中心 1 个：Beijing
- 尚未开始招募NCT06819514The Safety and Efficacy of Intravenous EXG110 in Patients With Fabry Disease中国研究中心 3 个：Hangzhou、Nanjing
- 招募中NCT07187440A Study of Agalsidase Alfa Enyzme Replacement Therapy in Chinese Children and Adults With Fabry Disease中国研究中心 18 个：Beijing、Chengdu、Fuzhou、Hangzhou、Harbin、Hefei 等 14 地
其他状态的试验（8 项）
- 已撤回NCT04965467Fabry Aim Children Early (ACE) Project中国研究中心 21 个：Beijing、Chengdu、Chongqing、Guangzhou、Hangzhou、Hebei 等 21 地
- 已完成NCT05054387China Post-marketing Surveillance (PMS) Study of Fabrazyme®中国研究中心 6 个：Beijing、Shanghai、Taiyuan、Wuhan
- 进行中·不再招募NCT05206773A Study to Evaluate the Effect of Venglustat Tablets on Neuropathic and Abdominal Pain in Male and Female Participants ≥16 Years of Age With Fabry Disease中国研究中心 4 个：Beijing、Shanghai、Taiyuan、Zhengzhou
- 已完成NCT04974749A Study of REPLAGAL® in Treatment-naive Chinese Participants With Fabry Disease中国研究中心 6 个：Beijing、Changsha、Chengdu、Hangzhou、Jinan、Shanghai
- 进行中·不再招募NCT05280548A Study to Evaluate the Effect of Venglustat Tablets on Left Ventricular Mass Index in Male and Female Adult Participants With Fabry Disease中国研究中心 5 个：Beijing、Chengdu、Guangzhou、Shanghai
- 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
- 状态未知NCT06169358Screening Patients With Fabry Disease in Patients With Hypertrophic Cardiomyopathy or Left Ventricular Hypertrophy中国研究中心 1 个：Jinan
- 状态未知NCT06114329Study of the Safety and Biologic Activity of AL01211 in Treatment Naive Males With Classic Fabry Disease中国研究中心 6 个：Beijing、Changsha、Chengdu、Guangzhou、Shanghai、Zhengzhou
中国境外的在招试验 46L2
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10意大利8英国5法国4德国4西班牙3中国台湾3韩国2丹麦2加拿大2罗马尼亚1瑞典1比利时1奥地利1另有 6 个国家/地区
CT.gov 报告命中 46 项，此处取回并展示最近的 15 项。
- 招募中NCT07109375Observational Study on Long-term Use of Pegunigalsidase Alfa in Fabry Patients in a Real-world Setting意大利
- 招募中NCT07575347Periodontal Disease in Rare Renal Disorders (PERIO-RA-RE)罗马尼亚
- 尚未开始招募NCT07560956Quality of Life in Adults With Untreated Fabry Disease in Sweden (QoLUF)瑞典
- 尚未开始招募NCT07485660Care Pathway for Patients With Fabry's Disease (Fabry-PATH)法国
- 招募中NCT06906367A Study of Patients With Fabry Disease (US Specific)美国
- 招募中NCT06904261A Study of Migalastat in Pediatric Subjects (2 to <12 Yrs) With Fabry Disease and Amenable GLA Variants比利时、德国、西班牙、英国、美国
- 尚未开始招募NCT07351136Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease
- 招募中NCT07235709Effect of Agalsidase Alfa on Cardiac Inflammation in Patients With Fabry Disease: A [18F]-FDG PET-CMR Study韩国
- 招募中NCT06328608A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents With Fabry Disease奥地利、法国、挪威、西班牙、英国、美国
- 招募中NCT07382128Myocardial Perfusion CMR for Differentiating and Characterizing Hypertrophic Cardiomyopathy Phenotypes意大利
- 招募中NCT06941025Maternal and Postnatal Outcomes Study (MOS): A Global Observational Registry Assessing the Safety of Elfabrio® in Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding德国、意大利、西班牙、英国、美国
- 招募中NCT06858397A proof-of Concept Study to Assess Safety and Tolerability of HM15421/GC1134A in Patients With Fabry Disease阿根廷、韩国、美国
- 尚未开始招募NCT06956573Aortic Dimensions in Patients With Fabry Disease
- 招募中NCT06776419the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease丹麦
- 招募中NCT04252066A Global Prospective Observational Study of Women With Fabry Disease and Their Infants During Pregnancy and Breastfeeding美国
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）