戈谢病
Gaucher disease
定义 英文原文（暂无中文）
Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).
别名
酸性β葡萄糖苷酶缺乏症
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-9 / 100 000（Europe）
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 |
|---|---|---|
| GBA1 | glucosylceramidase beta 1 | ORPHA:77259 |
临床表型 93
极常见 99–80%5
- 贫血 HP:0001903
- β-葡萄糖脑苷脂酶蛋白和活性降低 HP:0003656
- 疲乏 HP:0012378
- 肝脏肿大 HP:0002240
- 脾肿大 HP:0001744
常见 79–30%30
- 腹痛 HP:0002027
- 骨结构异常 HP:0003330
- 运动异常 HP:0100022
- 骨骼系统异常 HP:0000924
- 关节疼痛 HP:0002829
- 共济失调 HP:0001251
- 缺血性坏死 HP:0010885
- 双侧强直- 阵挛发作 HP:0002069
- 骨痛 HP:0002653
- 胆石症 HP:0001081
- 青春期发育延迟 HP:0000823
- 骨成熟延迟 HP:0002750
- 抑郁 HP:0000716
- 发育倒退 HP:0002376
- 吞咽困难 HP:0002015
- 循环血管紧张素转换酶浓度升高 HP:6000213
- 血液趋化因子CCL18升高 HP:0032640
- 股骨锥形瓶状变形 HP:0004975
- 婴儿期喂养困难 HP:0008872
- 发热 HP:0001945
- 全面性肌阵挛发作 HP:0002123
- 生长延迟 HP:0001510
- 血清铁蛋白升高 HP:0003281
- 智力障碍 HP:0001249
- 关节脱位 HP:0001373
- 白细胞减少症 HP:0001882
- 骨质减少 HP:0000938
- 复发性骨折 HP:0002757
- 斜视 HP:0000486
- 血小板减少症 HP:0001873
偶见 29–5%55
- 异常出血 HP:0001892
- 心脏瓣膜形态异常 HP:0001654
- 黄斑形态异常 HP:0001103
- 心肌形态异常 HP:0001637
- 心包形态异常 HP:0001697
- 肺间质形态异常 HP:0006530
- 凝血异常 HP:0001928
- 锥体外系功能障碍 HP:0002071
- 皮肤着色异常 HP:0001000
- 主动脉瓣钙化 HP:0004380
- 先天性多发性关节挛缩 HP:0002804
- 黄斑樱桃红斑 HP:0010729
- 肝硬化 HP:0001394
- 角膜混浊 HP:0007957
- 颅神经麻痹 HP:0006824
- 婴儿期夭折 HP:0001522
- 低α-脂蛋白血症 HP:0003233
- 痴呆 HP:0000726
- C-反应蛋白水平升高 HP:0011227
- 牙龈出血 HP:0000225
- 听力受损 HP:0000365
- 血尿 HP:0000790
- 偏瘫/轻偏瘫 HP:0004374
- 肝纤维化 HP:0001395
- 肝炎 HP:0012115
- 脑积水 HP:0000238
- 胎儿水肿 HP:0001789
- 肌张力减退 HP:0001252
- 鱼鳞病 HP:0008064
- 骨密度增加 HP:0011001
- 循环抗体水平升高 HP:0010702
- 关节僵硬 HP:0001387
- 脊柱后凸畸形（驼背） HP:0002808
- 二尖瓣钙化 HP:0004382
- 多发性骨髓瘤 HP:0006775
- 眼球运动失用 HP:0000657
- 角弓反张 HP:0002179
- 骨关节炎 HP:0002758
- 骨质溶解 HP:0002797
- 骨髓炎 HP:0002754
- 骨质疏松 HP:0000939
- 全血细胞减少症 HP:0001876
- 副蛋白血症 HP:0031047
- 帕金森症 HP:0001300
- 病理性骨折 HP:0002756
- IgM抗体多克隆性增高 HP:0003459
- 蛋白尿 HP:0000093
- 肺动脉高压 HP:0002092
- 肺纤维化 HP:0002206
- 呼吸功能不全 HP:0002093
- 视网膜病变 HP:0000488
- 感觉运动神经病 HP:0007141
- 身材矮小 HP:0004322
- 震颤 HP:0001337
- 巨脑室 HP:0002119
罕见 <4–1%3
- 肝功能衰竭 HP:0001399
- 脾梗死 HP:0034336
- 脾破裂 HP:0012223
近两年的全球研究 1,269L2
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。
- 2026-10开放获取Integrating Gaucher disease (GD) into mainstream hematological curriculum training
- 2026-10病例报告The close relationship between a rare disease and a common disease: Case report of a patient with gaucher disease and parkinsonism
- 2026-10开放获取Proteomic Signatures of Noise-Induced Hearing Loss in the Mouse Cochlea
- 2026-10开放获取Generation and Characterization of an Osteoclastic Cell Model of Gaucher's Bone Disease
- 2026-10Decision-Making in IVF: Restrictions on PGT-M Positive Embryo Transfers-A Qualitative Study
- 2026-09开放获取Marigold suspension cell culture as production system for recombinant DsRed and brazzein
- 2026-09综述Ambroxol in Gaucher disease and GBA1-related Parkinson disease: an updated systematic review
- 2026-09综述Considering seriousness in preconception carrier screening: a framework to support policy deliberation
- 2026-09综述CRISPR screening in neurodegeneration and lysosomal biology: Uncovering disease mechanisms and genetic modifiers
- 2026-09开放获取Multi-criteria decision analysis of dendrimer applications in drug delivery systems
- 2026-09综述开放获取Miglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing
- 2026-09GBA1 in Parkinson's disease: past, present and future
- 2026-09开放获取Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study
- 2026-09开放获取Impaired α-Granule Secretion Dominates Longitudinal Agonist-Induced Platelet Dysfunction in Gaucher Disease
- 2026-09Hemophagocytic Lymphohistiocytosis in a Patient With Gaucher Disease Having a Homozygous STXBP3 Variant
- 2026-09综述开放获取Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review
- 2026-09开放获取Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey
- 2026-09开放获取Sphingolipid Remodeling and Extracellular Vesicle Signatures Reflect Disease Severity in Facioscapulohumeral Dystrophy Driven by Mitochondrial Dysfunction and Endoplasmic Reticulum Stress
- 2026-09系统综述综述开放获取Liver Disease in Transaldolase Deficiency: Molecular Basis, Genotype-Phenotype Relationships, and Transplantation Outcomes-A Systematic Review
- 2026-09病例报告开放获取Delayed Diagnosis of Type 1 Gaucher Disease at Age 15 After Years of Mild Cytopenias and Splenomegaly: A Case Report and Long-Term Follow-Up
境外已获批用于本病的药物 10L2
欧盟 4 项、美国 6 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。
- Cerezyme欧盟1997-11-17imiglucerase官方记录
- Vpriv欧盟2010-08-26velaglucerase alfa官方记录
- Cerdelga欧盟2015-01-19eliglustat官方记录
- Yargesa欧盟2017-03-22miglustat官方记录
- Ceredase美国1991-04-05Alglucerase injection官方记录
- Cerezyme美国1994-05-23Imiglucerase官方记录
- Zavesca美国2003-07-31miglustat官方记录
- VPRIV美国2010-02-26velaglucerase-alfa官方记录
- ELELYSO for injection美国2012-05-01Taliglucerase alfa官方记录
- CERDELGA美国2014-08-19eliglustat官方记录
尚未获批的在研药物（22 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。
- Elelyso欧盟2010-03-23taliglucerase alfaTreatment of Gaucher disease官方记录
- (3S)-1-azabicyclo[2.2.2]oct-3-yl{2-[2-(4-fluorophenyl)-1,3-thiazol-4-y欧盟2014-11-19Treatment of Gaucher disease官方记录
- adeno-associated viral vector serotype 9 expressing codon-optimized hu欧盟2021-02-19Treatment of Gaucher disease官方记录
- Adeno-associated viral vector serotype S3 containing codon-optimised e欧盟2021-08-20Treatment of Gaucher disease官方记录
- ambroxol hydrochloride欧盟2023-11-08Treatment of Gaucher disease官方记录
- (S)-Quinuclidin-3-yl((R)-5-(3-chloro-4-isopropoxyphenyl)-2,2-dimethyl-欧盟2026-06-22Treatment of Gaucher disease官方记录
- L-cycloserine美国1989-08-01Treatment of Gaucher's disease.官方记录
- PEG-glucocerebrosidase美国1992-12-09For use as chronic enzyme replacement therapy in patients with Gaucher's disease who are deficient in glucocerebrosidase.官方记录
- Recombinant retroviral vector - glucocerebrosidase美国1993-11-15For use as enzyme replacement therapy for patients with types I, II, or III Gaucher disease.官方记录
- Alglucerase injection美国1995-07-21Replacement therapy in patients with Type II and III Gaucher's disease.官方记录
- Alendronate disodium美国2001-02-13Treatment of the bone manifestations of Gaucher disease官方记录
- ambroxol美国2011-06-29Treatment of Gaucher disease官方记录
- venglustat美国2014-09-11Treatment of Gaucher disease官方记录
- Modified cholera toxin美国2017-02-07Treatment of Gaucher disease官方记录
- recombinant adeno-associated virus serotype 9 constitutively expressin美国2020-01-27Treatment of Gaucher disease官方记录
- AAV9 capsid encapsulating a bicistronic vector encoding for a unique c美国2020-10-21treatment of Gaucher disease官方记录
- Recombinant adeno-associated viral vector serotype S3 containing codon美国2021-08-11Treatment of Gaucher Disease官方记录
- Eliglustat Tartrate美国2021-09-02Treatment of Gaucher Disease Type 1 patients who are CYP2D6 ultra-rapid metabolizers and patients whose CYP2D6 genotype cannot be determined (i.e., indeterminate metabolizers).官方记录
- recombinant adeno-associated virus (rAAV)美国2023-10-05Treatment of Gaucher disease官方记录
- Adeno-associated virus 9 vector expressing a functional human codon op美国2024-09-09Treatment of Gaucher Disease官方记录
- adeno-associated viral vector delivering human GBA1 gene美国2026-01-13treatment of Gaucher disease官方记录
- selective glucosylceramide synthase (GCS) inhibitor美国2026-04-10treatment of Gaucher disease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 12L2
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 5
- 招募中NCT00358943International Collaborative Gaucher Group (ICGG) Gaucher Disease Registry & Pregnancy Sub-registry中国研究中心 10 个：Beijing、Guangzhou、Hangzhou、Nanjing、Shanghai
- 招募中NCT06272149An Exploratory Clinical Trial of VGN-R08b in Patients With Type II Gaucher Disease中国研究中心 1 个：Shanghai
- 招募中NCT06162338A Study of the Safety and Preliminary Efficacy of LY-M001 Injection in the Treatment of Adult Patients With Gaucher Disease Type I中国研究中心 1 个：Hanzhou
- 招募中NCT06818838A Clinical Study Evaluating LY-M001 Injection in the Treatment of Adult Patients With Type I Gaucher Disease中国研究中心 3 个：Guangzhou、Taiyuan、Tianjin
- 尚未开始招募NCT046375034SCAR-T Therapy Targeting GD2, PSMA and CD276 for Treating Neuroblastoma中国研究中心 1 个：Shenzhen
其他状态的试验（7 项）
- 已完成NCT01074944A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)中国研究中心 4 个：Beijing、Shanghai、Tianjin
- 已完成NCT04656600Study to Evaluate Efficacy and Safety of Imiglucerase Treatment in Chinese Patients With Gaucher Disease Type Ⅲ中国研究中心 5 个：Beijing、Chengdu、Guangzhou
- 进行中·不再招募NCT05222906Study to Evaluate the Efficacy and Safety of Venglustat in Adult and Pediatric Patients With Gaucher Disease Type 3中国研究中心 4 个：Beijing、Guangzhou、Shanghai、Taipei
- 状态未知NCT05447494Phase 1/2 Study of CAN103 in Subjects With Gaucher Disease中国研究中心 1 个：Beijing
- 已完成NCT05529992A Study of Velaglucerase Alfa (VPRIV) in Chinese Children, Teenagers, and Adults With Type 1 Gaucher Disease中国研究中心 10 个：Beijing、Guangzhou、Lanzhou、Nanjing、Shijiazhuang、Tianjin 等 7 地
- 状态未知NCT06523517Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3中国研究中心 1 个：Beijing
- 进行中·不再招募NCT06528080A Clinical Study for the Treatment of Pediatric and Adolescent Patients With Type 1 Gaucher Disease中国研究中心 1 个：Shanghai
中国境外的在招试验 30L2
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14以色列3英国3土耳其2阿根廷2西班牙2印度1巴基斯坦1澳大利亚1巴西1加拿大1沙特阿拉伯1中国台湾1
CT.gov 报告命中 30 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT05669729A Survey to Assess Participants', Caregivers', and Nurses' Use and Understanding of Educational Material on Velaglucerase Alfa (VPRIV) Home Infusion
- 尚未开始招募NCT07715084Study to Evaluate the Efficacy and Safety of Nizubaglustat (AZ-3102) in Patients With Gaucher Disease Type 3 (GD3)印度、巴基斯坦、土耳其
- 尚未开始招募NCT07603050A Phase I/II Clinical Study to Evaluate the Safety and Efficacy of VGN-R08b in Patients With Type III Gaucher's Disease
- 招募中NCT07758816Advancing Integrated Therapies for Gaucher Disease美国
- 招募中NCT07223944A Gaucher Disease Gene Therapy Trial With FLT201阿根廷、澳大利亚、巴西、加拿大、以色列、沙特阿拉伯、西班牙、土耳其 等 10 国
- 招募中NCT06573723Institutional Registry of Rare Diseases阿根廷
- 尚未开始招募NCT06258577Screening for Gaucher Disease and Acid Sphingomyelinase Deficiency中国台湾
- 招募中NCT05843552Extracellular Vesicles as Potential Biomarkers and Therapeutic Target in Gaucher Disease美国
- 招募中NCT05992532GammaGA: Prevalence of Acid Sphingomyelinase Deficiency Disease (ASMD) and Gaucher Disease in Patients With Monoclonal Gammopathies and/or Multiple Myeloma西班牙
- 招募中NCT05586243MAGNETIC RESONANCE SPECTROSCOPY BIOMARKERS IN TYPE 3 GAUCHER DISEASE (GD3)美国
- 招募中NCT05619900Registry of Patients Diagnosed With Lysosomal Storage Diseases美国
- 招募中NCT04532047PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)美国
- 招募中NCT04528355Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC美国
- 招募中NCT04388969World Data on Ambroxol for Patients With GD and GBA Related PD以色列
- 招募中NCT06151002PD Frontline (Part of RAPSODI GD) Remote Assessment of People With Parkinson's英国
外部标识与链接
OrphanetOMIM:230800OMIM:230900OMIM:231000MONDO:0018150GARD:8233ICD-10 E75.2ICD-11 5C56.0YClinicalTrials.gov 检索
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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）