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糖原贮积症

Glycogen storage disease

ORPHA:79201疾病组中国目录 第1批 · 35

别名

糖原病

基本事实

患病率
1-9 / 100 000（China）

相关基因 27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
AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferaseORPHA:366
ENO3enolase 3ORPHA:99849
EPM2AEPM2A glucan phosphatase, laforinORPHA:501
G6PC1glucose-6-phosphatase catalytic subunit 1ORPHA:79258
GAAalpha glucosidaseORPHA:308552
GBE11,4-alpha-glucan branching enzyme 1ORPHA:206583
GYG1glycogenin 1ORPHA:263297
GYS1glycogen synthase 1ORPHA:137625
GYS2glycogen synthase 2ORPHA:2089
LAMP2lysosome associated membrane protein 2ORPHA:34587
LDHAlactate dehydrogenase AORPHA:284426
LDHBlactate dehydrogenase BORPHA:284435
NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1ORPHA:501
PFKMphosphofructokinase, muscleORPHA:371
PGAM2phosphoglycerate mutase 2ORPHA:97234
PGK1phosphoglycerate kinase 1ORPHA:713
PHKA1phosphorylase kinase regulatory subunit alpha 1ORPHA:715
PHKA2phosphorylase kinase regulatory subunit alpha 2ORPHA:264580
PHKBphosphorylase kinase regulatory subunit betaORPHA:79240
PHKG2phosphorylase kinase catalytic subunit gamma 2ORPHA:264580
PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2ORPHA:439854
PYGLglycogen phosphorylase LORPHA:369
PYGMglycogen phosphorylase, muscle associatedORPHA:368
RBCK1RANBP2-type and C3HC4-type zinc finger containing 1ORPHA:397937
RNF31ring finger protein 31ORPHA:329173
SLC2A2solute carrier family 2 member 2ORPHA:2088
SLC37A4solute carrier family 37 member 4ORPHA:79259

近两年的全球研究 1,212L2

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
    Abstracts
    JPGN reports
  • 2026-10开放获取
    Preparing Genetic Counselors for Advocacy Partnerships: A Novel Internship Model
    Journal of genetic counseling · DOI · Europe PMC
  • 2026-10
    Subcutaneous Fat Density Is an Independent Predictor of Adverse Outcomes and Shows Early Improvement After Liver Transplantation
    Liver international : official journal of the International Associatio · DOI · Europe PMC
  • 2026-09综述开放获取
    Posttranslational Modifications of p62/SQSTM1 in Health and Disease
    MedComm · DOI · Europe PMC
  • 2026-09开放获取
    Heated tobacco product-derived aerosol extract impairs gingival epithelial barrier function via CXADR downregulation
    Toxicology reports · DOI · Europe PMC
  • 2026-09综述开放获取
    RNA therapeutics: current status and future directions
    Signal transduction and targeted therapy · DOI · Europe PMC
  • 2026-09开放获取
    Utility of Exogenous Ketones and Modified Atkins Diet in a Child With GSD VII (Tarui Disease)
    JIMD reports · DOI · Europe PMC
  • 2026-09
    Aryl Hydrocarbon Receptor regulates uric acid homeostasis
    Arthritis & rheumatology (Hoboken, N.J.) · DOI · Europe PMC
  • 2026-09
    Rapid progression of β-cell dysfunction in a patient with glycogen storage disease type 1a complicated by diabetes: longitudinal assessment by serial OGTTs with a review of the literature
    Endocrine journal · DOI · Europe PMC
  • 2026-09
    Screening for potential late-onset Pompe disease patients among individuals with suspected sleep apnea: A prospective, multicenter observational Cohort Study in Japan (PSSAP-J Study)
    Sleep & breathing = Schlaf & Atmung · DOI · Europe PMC
  • 2026-09
    Preliminary clinical application of two-dimensional speckle tracking echocardiography in adult-onset glycogen storage disease type II
    Archives of physiology and biochemistry · DOI · Europe PMC
  • 2026-09开放获取
    Identification of rare maternal copy number variants by genome-wide analysis of noninvasive prenatal screening data in 113,017 pregnant women
    Annals of medicine · DOI · Europe PMC
  • 2026-09病例报告开放获取
    Glycogen storage disease type XIV in the Middle East and North Africa region: A case report
    World journal of clinical pediatrics · DOI · Europe PMC
  • 2026-09综述开放获取
    Phenomenology in pediatric nursing: Lessons from studies of mothers caring for children with chronic illnesses
    World journal of clinical pediatrics · DOI · Europe PMC
  • 2026-09综述开放获取
    Engineering mRNA-LNP Medicines for the Ageing Brain: Opportunities and Challenges for Neurodegenerative Diseases
    Exploration (Beijing, China) · DOI · Europe PMC
  • 2026-09病例报告开放获取
    A Tarui Disease Phenotype with Compensated Hemolysis and a Homozygous <i>PFKM</i> Variant of Uncertain Significance Mimicking Chronic Myelomonocytic Leukemia
    Journal of clinical medicine · DOI · Europe PMC
  • 2026-09病例报告开放获取
    Amiodarone-induced liver injury with bright liver sign: A case report
    World journal of radiology · DOI · Europe PMC
  • 2026-09病例报告
    Case 354
    Radiology · DOI · Europe PMC
  • 2026-09开放获取
    Cardiomegaly of Unknown Origin: Why Morphology Still Matters in the Genetic Era - A Case of Cardiac Fabry Disease
    Medeniyet medical journal · DOI · Europe PMC
  • 2026-09综述病例报告开放获取
    Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis
    Molecular genetics & genomic medicine · DOI · Europe PMC

境外已获批用于本病的药物 8L2

欧盟 4 项、美国 4 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。

  • Myozyme欧盟2006-03-28
    alglucosidase alfa
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    官方记录
  • Nexviadyme欧盟2022-06-24
    avalglucosidase alfa
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    官方记录
  • Pombiliti欧盟2023-03-20
    cipaglucosidase alfa
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    官方记录
  • Opfolda欧盟2023-06-26
    miglustat
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    官方记录
  • 1. Myozyme 2. Lumizyme美国2006-04-28
    Recombinant human acid alpha-glucosidase; alglucosidase alfa
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    官方记录
  • Nexviazyme美国2021-08-06
    avalglucosidase alfa-ngpt
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    官方记录
  • Pombiliti and Opfolda美国2023-09-28
    cipaglucosidase alfa-atga and miglustat
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    官方记录
  • Genglycos美国2026-08-19
    pariglasgene brecaparvovec-opnr
    官方记录
尚未获批的在研药物（27 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。

  • Glycosylation independent lysosomal targeting (GILT)-tagged recombinan欧盟2011-10-27
    Treatment of glycogen storage disease type II (Pompe's disease)
    官方记录
  • recombinant adeno-associated viral vector containing human acid alfa-g欧盟2012-07-04
    Treatment of glycogen storage disease type II (Pompe's disease)
    官方记录
  • recombinant human acid alpha-glucosidase conjugated with mannose-6-pho欧盟2016-08-29
    Treatment of glycogen storage disease type II (Pompe's disease)
    官方记录
  • adeno-associated viral vector serotype 8 containing the human glucose-欧盟2016-11-18
    treatment of glycogen storage disease type Ia
    官方记录
  • adeno-associated viral vector expressing acid alpha-glucosidase gene欧盟2020-07-27
    Treatment of glycogen storage disease type II (Pompe's disease)
    官方记录
  • mRNA encoding the human glycogen debranching enzyme欧盟2021-07-19
    该药获批用于糖原脱支酶缺乏所致糖原贮积病——本病种下的一个亚型
    Treatment of glycogen storage disease type III
    官方记录
  • mRNA encoding human glucose-6-phosphatase variant S298C欧盟2022-01-14
    treatment of glycogen storage disease type Ia
    官方记录
  • autologous CD34+ cells transduced with a lentiviral vector containing 欧盟2024-02-15
    Treatment of glycogen storage disease type II (Pompe's disease)
    官方记录
  • diazoxide choline欧盟2024-12-13
    该药获批用于葡萄糖-6-磷酸酶缺乏所致肝糖原贮积症——本病种下的一个亚型
    Treatment of glycogen storage disease type I
    官方记录
  • N-(2-Methoxyethyl)-6-methyl-N-[(3-methyl-2-thienyl)methyl]-2-oxo-1,2-d欧盟2025-01-16
    该药获批用于糖原分支酶缺乏所致糖原贮积病——本病种下的一个亚型
    Treatment of glycogen storage disease type IV
    官方记录
  • Recombinant human highly phosphorylated acid alpha-glucosidase美国2000-09-20
    For enzyme replacement therapy in patients with all subtypes of glycogen storage disease type II (GSDII, Pompe Disease)
    官方记录
  • Triheptanoin美国2008-02-01
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    Treatment of glycogen storage disorder II (Pompe disease)
    官方记录
  • reveglucosidase alfa美国2010-08-20
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    Treatment of Pompe disease.
    官方记录
  • AAV-G6Pase vector美国2013-03-11
    Treatment of glycogen storage disease type Ia
    官方记录
  • amylopectin美国2015-03-24
    Treatment of glycogen storage disease types Ia and Ib
    官方记录
  • clenbuterol美国2017-01-09
    treatment of Pompe disease (glycogen storage disease type II)
    官方记录
  • recombinant adeno-associated viral (AAV) vector that contains a bio-en美国2019-02-01
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    Treatment of Pompe Disease
    官方记录
  • recombinant adeno-associated viral vector serotype 8 encoding human ac美国2019-12-31
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    Treatment of Pompe Disease
    官方记录
  • Diazoxide Choline美国2021-05-26
    Treatment of Glycogen Storage Disease Type 1a (GSD1a), also knows as Van Gierke's Disease
    官方记录
  • mRNA encoding the human glycogen debranching enzyme美国2021-06-24
    该药获批用于糖原脱支酶缺乏所致糖原贮积病——本病种下的一个亚型
    Treatment of glycogen storage disease type III
    官方记录
  • Modified mRNA that encodes human glucose-6-phosphatase-alpha美国2021-08-27
    Treatment of glycogen storage disease type 1a (GSD1a)
    官方记录
  • CD71 Binding Centyrin-GYS1 siRNA美国2022-08-01
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    Treatment of Pompe Disease
    官方记录
  • selective inhibitor of GYS1美国2022-08-12
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    Treatment of Pompe Disease
    官方记录
  • N-(2-Methoxyethyl)-6-methyl-N-[(3-methyl-2-thienyl)methyl]-2-oxo-1,2-d美国2023-08-09
    Treatment of Glycogen Storage Disease type IV (GSD-IV)
    官方记录
  • Lipid nanoparticles containing prime editing components (mRNA, pegRNA 美国2024-10-04
    该药获批用于葡糖-6-磷酸酶缺乏所致糖原贮积症1b型——本病种下的一个亚型
    Treatment of glycogen storage disease type 1B
    官方记录
  • recombinant adeno-associated virus serotype 9 vector expressing codon 美国2025-02-28
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    treatment of Pompe disease
    官方记录
  • non-replicating single stranded recombinant adeno-associated viral vec美国2025-10-16
    该药获批用于酸性麦芽糖酶缺乏所致糖原贮积病——本病种下的一个亚型
    treatment of Pompe 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 9L2

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NCT00231400
    Pompe Disease Registry Protocol
    观察性 · 2004/09/15Genzyme, a Sanofi Company
    中国研究中心 8 个：Beijing、Guangzhou、Jinan、Shanghai
  • 招募中NCT07336394
    Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
    观察性 · 2010/01/01Chinese Academy of Medical Sciences, Fuwai Hospital
    中国研究中心 1 个：Beijing
  • 尚未开始招募NCT06178432
    Evaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)
    早期 I 期 · 干预性 · 2023/12Huashan Hospital
    中国研究中心 1 个：Shanghai
  • 招募中NCT06391736
    Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug
    I 期、II 期 · 干预性 · 2024/04/19GeneCradle Inc
    中国研究中心 1 个：Beijing
  • 招募中NCT06666413
    China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD
    IV 期 · 干预性 · 2025/05/07Genzyme, a Sanofi Company
    中国研究中心 1 个：Shanghai
其他状态的试验（4 项）
  • 已完成NCT03687333
    Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment
    IV 期 · 干预性 · 2018/12/04Genzyme, a Sanofi Company
    中国研究中心 1 个：Shanghai
  • 已完成NCT04676373
    Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen
    IV 期 · 干预性 · 2021/03/10Genzyme, a Sanofi Company
    中国研究中心 1 个：China
  • 进行中·不再招募NCT04910776
    Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa
    III 期 · 干预性 · 2021/09/01Sanofi
    中国研究中心 2 个：Qingdao、Shanghai
  • 已撤回NCT05960617
    Efficacy and Safety of Empagliflozin in GSD-Ib Patients
    II 期 · 干预性 · 2023/07/15Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
    中国研究中心 1 个：Shanghai

中国境外的在招试验 48L2

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23意大利11德国7英国6法国5比利时4荷兰4丹麦3西班牙3巴西2中国台湾2捷克2澳大利亚2瑞士1另有 10 个国家/地区

CT.gov 报告命中 48 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT05402332
    Evaluating the Efficacy and Safety of D-galactose in PGM1-CDG (AVTX-801)
    II 期 · 干预性 · 2026/10/01Eva Morava-Kozicz
    美国
  • 尚未开始招募NCT07787650
    A Study of S-606001 as Monotherapy in Participants With Late-onset Pompe Disease (LOPD)
    I 期 · 干预性 · 2026/09/30Shionogi
  • 招募中NCT07738107
    ATR 1072 in Participants With PRKAG2 Syndrome
    I 期、II 期 · 干预性 · 2026/09/14Atrium Therapeutics
    美国
  • 尚未开始招募NCT07750990
    An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
    II 期 · 干预性 · 2026/08/31Shionogi
  • 尚未开始招募NCT07739394
    Diazoxide in the Treatment of Type 1 Glycogenosis
    观察性 · 2026/08/30Central Hospital, Nancy, France
  • 招募中NCT07459582
    Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease
    观察性 · 2026/08Connecticut Children's Medical Center
    美国
  • 招募中NCT07354724
    A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease
    I 期 · 干预性 · 2026/05/12Denali Therapeutics Inc.
    美国
  • 招募中NCT07282847
    A Study to Evaluate Safety, Tolerability, and Efficacy of AB-1009 Gene Therapy (GAA Gene) in Adult Participants With Late-Onset Pompe Disease (PROGRESS-GT LOPD)
    I 期、II 期 · 干预性 · 2026/04/15AskBio Inc
    美国
  • 招募中NCT07664930
    Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease
    观察性 · 2026/03/30IRCCS National Neurological Institute "C. Mondino" Foundation
    意大利
  • 招募中NCT07478172
    Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
    不适用 · 干预性 · 2026/03/10University of Missouri-Columbia
    美国
  • 招募中NCT07645898
    Use of Continuous Glucose Monitoring to Evaluate Postprandial Response to Raw Cornstarch Supplementation in Adult Glycogen Storage Disease Type I
    观察性 · 2026/02/05Federico II University
    意大利
  • 招募中NCT07123155
    Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
    II 期 · 干预性 · 2025/10/30Shionogi
    比利时、丹麦、法国、德国、意大利、荷兰、西班牙、英国 等 9 国
  • 招募中NCT06852612
    Dietary Treatment Strategies and Metabolic Control in Glycogen Storage Disease Type I
    不适用 · 干预性 · 2025/04/24Insel Gruppe AG, University Hospital Bern
    瑞士
  • 招募中NCT06843330
    Accuracy of Lactate Meter in GSDIa
    观察性 · 2025/04/14Connecticut Children's Medical Center
    美国
  • 招募中NCT06833489
    Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases
    不适用 · 干预性 · 2025/03/01Assistance Publique Hopitaux De Marseille
    法国

外部标识与链接

OrphanetMONDO:0002412MONDO:2412ICD-10 E74.0ICD-11 5C51.3ClinicalTrials.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）