糖原贮积症
Glycogen storage disease
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 |
|---|---|---|
| AGL | amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | ORPHA:366 |
| ENO3 | enolase 3 | ORPHA:99849 |
| EPM2A | EPM2A glucan phosphatase, laforin | ORPHA:501 |
| G6PC1 | glucose-6-phosphatase catalytic subunit 1 | ORPHA:79258 |
| GAA | alpha glucosidase | ORPHA:308552 |
| GBE1 | 1,4-alpha-glucan branching enzyme 1 | ORPHA:206583 |
| GYG1 | glycogenin 1 | ORPHA:263297 |
| GYS1 | glycogen synthase 1 | ORPHA:137625 |
| GYS2 | glycogen synthase 2 | ORPHA:2089 |
| LAMP2 | lysosome associated membrane protein 2 | ORPHA:34587 |
| LDHA | lactate dehydrogenase A | ORPHA:284426 |
| LDHB | lactate dehydrogenase B | ORPHA:284435 |
| NHLRC1 | NHL repeat containing E3 ubiquitin protein ligase 1 | ORPHA:501 |
| PFKM | phosphofructokinase, muscle | ORPHA:371 |
| PGAM2 | phosphoglycerate mutase 2 | ORPHA:97234 |
| PGK1 | phosphoglycerate kinase 1 | ORPHA:713 |
| PHKA1 | phosphorylase kinase regulatory subunit alpha 1 | ORPHA:715 |
| PHKA2 | phosphorylase kinase regulatory subunit alpha 2 | ORPHA:264580 |
| PHKB | phosphorylase kinase regulatory subunit beta | ORPHA:79240 |
| PHKG2 | phosphorylase kinase catalytic subunit gamma 2 | ORPHA:264580 |
| PRKAG2 | protein kinase AMP-activated non-catalytic subunit gamma 2 | ORPHA:439854 |
| PYGL | glycogen phosphorylase L | ORPHA:369 |
| PYGM | glycogen phosphorylase, muscle associated | ORPHA:368 |
| RBCK1 | RANBP2-type and C3HC4-type zinc finger containing 1 | ORPHA:397937 |
| RNF31 | ring finger protein 31 | ORPHA:329173 |
| SLC2A2 | solute carrier family 2 member 2 | ORPHA:2088 |
| SLC37A4 | solute carrier family 37 member 4 | ORPHA:79259 |
近两年的全球研究 1,153L2
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。
- 2026-08Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities
- 2026-07系统综述综述Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance
- 2026-07综述Defining the therapeutic corridor of stability in enzyme replacement therapy for Pompe disease: a position statement
- 2026-07Structural basis for substrate recognition and inhibition of human glucose-6-phosphate transporter SLC37A4
- 2026-07Synthesis of rhodamine B hydrazine derivatives and their application in glycan analysis
- 2026-07病例报告Phenotypic Expansion of GYG1-Related Disease Presenting as Hypertrophic Cardiomyopathy With Brugada Phenocopy
- 2026-07综述Base editing for precision therapeutics
- 2026-07A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfa
- 2026-07Genotype-phenotype spectrum and clinical outcomes of glycogen storage disease type I: A 15-year experience at Vietnam National Children's Hospital
- 2026-07综述Cardiomyopathy in glycogen storage diseases: diagnosis, prognosis, and advanced management
- 2026-07综述Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View
- 2026-07Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing Country
- 2026-07Hepatic Glycogen Storage Disease Type IX: Long-Term Outcomes in the UK From 89 Patients
- 2026-07Real-Life Effectiveness After Switching to Avalglucosidase Alfa in Late-Onset Pompe Disease Patients Worsening on Alglucosidase Alfa Therapy: A French Cohort Study
- 2026-07系统综述综述Continuous Glucose Monitoring in Glycogen Storage Diseases: A Systematic Review of Clinical Utility, Accuracy and Patient Outcomes
- 2026-07[A cross-sectional survey on uncooked corn starch application and gastrointestinal complications in children with hepatic glycogen storage disease]
- 2026-07Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late-Onset Pompe Patients
- 2026-06Highly potent MyoAAV4A vector reverses GSD III pathology in aged mice and enables long-term muscle disease correction in young adult mice
- 2026-06Health-Related Quality of Life in Pediatric Hepatic Glycogen Storage Disease: A Dual-Perspective Study
- 2026-06综述A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies
境外已获批用于本病的药物 7L2
欧盟 4 项、美国 3 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2006-03-28alglucosidase 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2022-06-24avalglucosidase 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2023-03-20cipaglucosidase 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2023-06-26miglustat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2006-04-28Recombinant 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2021-08-06avalglucosidase 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2023-09-28cipaglucosidase 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
已获孤儿药资格、尚未获批的在研药物（28 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。
- Glycosylation independent lysosomal targeting (GILT)-tagged recombinan欧盟2011-10-27Treatment 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2012-07-04Treatment 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2016-08-29Treatment 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2016-11-18treatment of glycogen storage disease type Ia官方记录
- adeno-associated viral vector expressing acid alpha-glucosidase gene欧盟2020-07-27Treatment 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2022-01-14treatment of glycogen storage disease type Ia官方记录
- autologous CD34+ cells transduced with a lentiviral vector containing 欧盟2024-02-15Treatment 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2000-09-20For 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2013-03-11Treatment of glycogen storage disease type Ia官方记录
- amylopectin美国2015-03-24Treatment of glycogen storage disease types Ia and Ib官方记录
- recombinant adeno-associated virus serotype 8 vector encoding human gl美国2016-09-28Treatment of glycogen storage disease type Ia (von Gierke Disease)官方记录
- clenbuterol美国2017-01-09treatment 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2021-05-26Treatment 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2021-08-27Treatment 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2023-08-09Treatment 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 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NCT00231400Pompe Disease Registry Protocol中国研究中心 8 个：Beijing、Guangzhou、Jinan、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
- 尚未开始招募NCT06178432Evaluation of the Safety, Tolerability and Efficacy of Gene Therapy Drug for Late Onset Pompe Disease (LOPD)中国研究中心 1 个：Shanghai
- 招募中NCT06391736Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug中国研究中心 1 个：Beijing
- 招募中NCT06666413China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD中国研究中心 1 个：Shanghai
其他状态的试验（4 项）
- 已完成NCT03687333Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment中国研究中心 1 个：Shanghai
- 已完成NCT04676373Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen中国研究中心 1 个：China
- 进行中·不再招募NCT04910776Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa中国研究中心 2 个：Qingdao、Shanghai
- 已撤回NCT05960617Efficacy and Safety of Empagliflozin in GSD-Ib Patients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NCT05402332Evaluating the Efficacy and Safety of D-galactose in PGM1-CDG (AVTX-801)美国
- 尚未开始招募NCT07738107ATR 1072 in Participants With PRKAG2 Syndrome
- 尚未开始招募NCT07750990An Extension Study of S-606001 in Participants With Late-onset Pompe Disease (LOPD)
- 尚未开始招募NCT07739394Diazoxide in the Treatment of Type 1 Glycogenosis
- 招募中NCT07459582Accuracy of Home Lactate Meter and Accu-chek Glucometer in Patients With Glycogen Storage Disease美国
- 招募中NCT07354724A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL952 in Adult Participants With Late-Onset Pompe Disease美国
- 招募中NCT07282847A 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)美国
- 招募中NCT07664930Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease意大利
- 招募中NCT07478172Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease美国
- 招募中NCT07645898Use of Continuous Glucose Monitoring to Evaluate Postprandial Response to Raw Cornstarch Supplementation in Adult Glycogen Storage Disease Type I意大利
- 招募中NCT07123155Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)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NCT06852612Dietary Treatment Strategies and Metabolic Control in Glycogen Storage Disease Type I瑞士
- 招募中NCT06843330Accuracy of Lactate Meter in GSDIa美国
- 招募中NCT06833489Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases法国
- 招募中NCT06795152Rare Glycogen Storage Diseases Natural History Study美国
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）