罕见病知识库 RareSeen

粘多糖贮积症

Mucopolysaccharidosis

ORPHA:79213疾病组中国目录 第1批 · 73

基本事实

患病率
1-9 / 100 000（Netherlands）

相关基因 12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
ARSBarylsulfatase BORPHA:276212
ARSKarylsulfatase family member KORPHA:662216
GALNSgalactosamine (N-acetyl)-6-sulfataseORPHA:309297
GLB1galactosidase beta 1ORPHA:309310
GNSglucosamine (N-acetyl)-6-sulfataseORPHA:79272
GUSBglucuronidase betaORPHA:584
HGSNATheparan-alpha-glucosaminide N-acetyltransferaseORPHA:79271
HYAL1hyaluronidase 1ORPHA:67041
IDSiduronate 2-sulfataseORPHA:217085
IDUAalpha-L-iduronidaseORPHA:93473
NAGLUN-acetyl-alpha-glucosaminidaseORPHA:79270
SGSHN-sulfoglucosamine sulfohydrolaseORPHA:79269

近两年的全球研究 3,190L2

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
    Proteomic Signatures of Noise-Induced Hearing Loss in the Mouse Cochlea
    Cell biology international · DOI · Europe PMC
  • 2026-10开放获取
    Small populations, big impact: leveraging rare disease gene therapies to benefit millions
    The Journal of clinical investigation · DOI · Europe PMC
  • 2026-10
    Genomic architecture of IRF4 rearrangements in childhood and adult large B-cell lymphomas
    Blood advances · DOI · Europe PMC
  • 2026-09综述
    Hunter syndrome (mucopolysaccharidosis type II): Molecular mechanisms, CNS biomarkers, and emerging therapeutic strategies
    Experimental and molecular pathology · DOI · Europe PMC
  • 2026-09综述病例报告
    Occipitocervical fusion and decompression in Morquio syndrome: a case report and literature review
    Child's nervous system : ChNS : official journal of the International · DOI · Europe PMC
  • 2026-09病例报告
    Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome
    Neurogenetics · DOI · Europe PMC
  • 2026-09综述
    Evolution of macrophage function in sepsis-induced cardiomyopathy: Cellular networks from immune imbalance to myocardial injury
    Pharmacological research · DOI · Europe PMC
  • 2026-09
    Uveal Effusion in Mucopolysaccharidosis Type II
    Ophthalmology · DOI · Europe PMC
  • 2026-09
    Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions
    American journal of medical genetics. Part A · DOI · Europe PMC
  • 2026-09
    Clinical and biochemical correction of a patient with neurodegenerative Mucopolysaccharidosis IIIA using hematopoietic stem cell gene therapy
    Molecular therapy : the journal of the American Society of Gene Therap · DOI · Europe PMC
  • 2026-09
    Characterization of Cellular Alterations in a Novel NAGLU Enzyme-Deficient Cellular Model Generated from U-87MG Cell Line
    Neurochemical research · DOI · Europe PMC
  • 2026-09
    Selenomethionine regulates macrophage polarization through mitochondrial dynamics via NF-κB signaling to attenuate sepsis-induced cardiomyopathy
    European journal of pharmacology · DOI · Europe PMC
  • 2026-09综述开放获取
    Acrodermatitis Dysmetabolica as a Cutaneous Manifestation of Isoleucine Deficiency in Maple Syrup Urine Disease: A Systematic Review of Reported Cases
    Health science reports · DOI · Europe PMC
  • 2026-09病例报告开放获取
    Staged management of a giant adult Todani type IVa choledochal cyst mimicking gallbladder hydrops
    Journal of surgical case reports · DOI · Europe PMC
  • 2026-09开放获取
    Haematological and biochemical profiling combined with HRAMS-based metabolomics reveals the potential biomarkers of <i>Wuchereria bancrofti</i> asymptomatic infections: towards early interventions and diagnostics
    RSC advances · DOI · Europe PMC
  • 2026-09
    Development and validation of an ELISA-based assay for detecting anti-idursulfase beta IgE antibodies in human serum using a conjugated IgG-IgE positive control antibody
    Journal of immunological methods · DOI · Europe PMC
  • 2026-09综述开放获取
    Miglustat in Neuronopathic Lysosomal Storage Disorders: Biological Rationale, Clinical Evidence, and Limits of Repurposing
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-09
    Synthesis of the endogenous non-reducing end heparan sulfate disaccharides for newborn screening and diagnosis of mucopolysaccharidosis types I and II
    Carbohydrate research · DOI · Europe PMC
  • 2026-09开放获取
    Acute aortic dissection masquerading as large bowel obstruction: a case report
    The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian · DOI · Europe PMC
  • 2026-09开放获取
    The Immunomodulatory Effects of Mannan on the Fungicidal Activity of Macrophages Against <i>Candidozyma auris</i> Bloodstream Infection Associated with the GPCR-PI3K-NF-κB Signaling Pathway
    Microorganisms · DOI · Europe PMC

境外已获批用于本病的药物 12L2

欧盟 5 项、美国 7 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。

  • Aldurazyme欧盟2003-06-09
    laronidase
    官方记录
  • Naglazyme欧盟2006-01-23
    galsulfase
    官方记录
  • Elaprase欧盟2007-01-08
    idursulfase
    官方记录
  • Vimizim欧盟2014-04-27
    elosulfase alfa
    官方记录
  • Mepsevii欧盟2018-08-23
    vestronidase alfa
    官方记录
  • Aldurazyme美国2003-04-30
    laronidase
    官方记录
  • Naglazyme美国2005-05-31
    N-acetylgalactosamine-4-sulfatase, recombinant human
    官方记录
  • Elaprase美国2006-07-24
    idursulfase
    官方记录
  • Vimizim美国2014-02-14
    elosulfase alfa
    官方记录
  • Mepsevii美国2017-11-15
    vestronidase alfa-vjbk
    官方记录
  • Avlayah美国2026-03-24
    tividenofusp alfa-eknm
    该药获批用于粘多糖贮积症2型——本病种下的一个亚型
    官方记录
  • Fayuvi美国2026-09-17
    rebisufligene etisparvovec-hopf
    官方记录
尚未获批的在研药物（64 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。

  • N-terminal hexaglutamine-tagged recombinant human N-acetylgalactosamin欧盟2009-02-27
    Treatment of mucopolysaccharidosis, type IVA (Morquio A syndrome)
    官方记录
  • adenovirus-associated viral vector serotype 10 carrying the human N-su欧盟2010-09-20
    Treatment of mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome)
    官方记录
  • adeno-associated viral vector containing the human ARSB gene欧盟2011-05-13
    Treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    官方记录
  • adeno-associated viral vector containing the human alpha-N-acetylgluco欧盟2011-10-27
    Treatment of mucopolysaccharidosis type IIIB (Sanfilippo B syndrome)
    官方记录
  • Genistein sodium salt dihydrate欧盟2012-04-02
    Treatment of mucopolysaccharidosis type III (Sanfilippo syndrome)
    官方记录
  • autologous CD34+ cells transduced with a lentiviral vector containing 欧盟2014-06-10
    Treatment of mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome)
    官方记录
  • Adeno-associated viral vector serotype rh.rh.10 carrying the human N-s欧盟2014-12-16
    Treatment of mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome)
    官方记录
  • chimeric fusion protein of recombinant human alpha-N-acetylglucosamini欧盟2015-01-15
    Treatment of mucopolysaccharidosis type IIIB
    官方记录
  • adeno-associated viral vector serotype 9 containing the human HGSNAT g欧盟2015-05-21
    Treatment of mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
    官方记录
  • self-complementary adeno-associated viral vector serotype 9 containing欧盟2016-09-20
    Treatment of mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome)
    官方记录
  • 6'-(R)-methyl-5-O-(5-amino-5,6-dideoxy-α-L-talofuranosyl)-paromamine s欧盟2016-09-22
    该药获批用于粘多糖贮积症1型——本病种下的一个亚型
    Treatment of mucopolysaccharidosis type I
    官方记录
  • chemically modified human recombinant sulfamidase欧盟2016-10-14
    Treatment of mucopolysaccharidosis, type IIIA (Sanfilippo A syndrome)
    官方记录
  • recombinant adeno-associated viral vector serotype 9 containing the hu欧盟2017-01-12
    Treatment of mucopolysaccharidosis type IIIB (Sanfilippo B syndrome)
    官方记录
  • odiparcil欧盟2017-08-23
    Treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    官方记录
  • Humanised IGg1 monoclonal antibody targeting human transferrin recepto欧盟2019-02-26
    Treatment of mucopolysaccharidosis type II (Hunter's syndrome)
    官方记录
  • adeno-associated virus serotype 9 vector containing human n-acetylgala欧盟2020-01-09
    Treatment of mucopolysaccharidosis type IVA (Morquio A Syndrome)
    官方记录
  • pentosan polysulfate sodium欧盟2020-08-21
    Treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
    官方记录
  • trehalose欧盟2020-08-21
    Treatment of mucopolysaccharidosis type III (Sanfilippo syndrome)
    官方记录
  • lepunafusp alfa欧盟2021-03-26
    该药获批用于粘多糖贮积症1型——本病种下的一个亚型
    Treatment of mucopolysaccharidosis type I
    官方记录
  • autologous CD34+ haematopoietic stem and progenitor cells genetically 欧盟2021-08-20
    Treatment of mucopolysaccharidosis type II (Hunter's syndrome)
    官方记录
  • Idursulfase beta欧盟2021-10-15
    Treatment of mucopolysaccharidosis type II (Hunter's syndrome)
    官方记录
  • posnafusp alfa欧盟2022-01-14
    Treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
    官方记录
  • recombinant human heparan-N-sulfatase欧盟2024-01-12
    Treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
    官方记录
  • Alpha-N-acetyl glucosaminidase fused to a humanised monoclonal antibod欧盟2025-06-20
    Treatment of mucopolysaccharidosis type IIIB (Sanfilippo B syndrome)
    官方记录
  • Recombinant human highly phosphorylated alpha-L-iduronidase (rhHP-IDUA美国2001-04-11
    Enzyme replacement therapy in patients with all subtypes of Mucopolysaccharidosis I.
    官方记录
  • IDUA-HIRMAb fusion protein美国2008-01-10
    Treatment of mucopolysaccharidosis Type 1 (MPS)
    官方记录
  • lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase美国2008-09-10
    Treatment of mucopolysaccharidosis Type IVA (Morquio Syndrome)
    官方记录
  • iduvec美国2011-01-21
    该药获批用于粘多糖贮积症1型——本病种下的一个亚型
    Treatment of Mucopolysaccharidosis Type I
    官方记录
  • adeno associated viral vector containing human ARSB gene美国2011-03-17
    Treatment of mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome)
    官方记录
  • idursulfase beta美国2013-02-11
    该药获批用于粘多糖贮积症2型——本病种下的一个亚型
    Treatment of Hunter Syndrome (mucopolysaccharidoses)
    官方记录
  • adeno associated viral vector serotype rh.10 carrying the human SGSH a美国2013-05-06
    Treatment of mucopolysaccharidosis type IIIA (Sanfilippo type A syndrome)
    官方记录
  • HIRMAb-IDS美国2013-05-15
    Treatment of mucopolysaccharidosis Type II (Hunter Syndrome)
    官方记录
  • Recombinant AAV9 expressing human alpha-N-acetylglucosaminidase美国2014-04-30
    Mucopolysaccharidosis III-B (Sanfilippo Syndrome Type B)
    官方记录
  • chimeric fusion protein of recombinant human alpha-N-acetylglucosamini美国2014-11-25
    Treatment of mucopolysaccharidosis III Type B (MPS IIIB, Sanfilippo Syndrome Type B)
    官方记录
  • pentosan polysulfate sodium美国2015-01-05
    Treatment of mucopolysaccharidosis (MPS) type VI
    官方记录
  • aden-associated virus vector serotype 9 expressing human a-L-iduronida美国2015-09-29
    Treatment of mucopolysaccharidosis Type I (MSP I).
    官方记录
  • adeno-associated viral (AAV) vector serotype rh. 10 encoding the human美国2015-11-18
    Treatment of mucopolysaccharidosis type IIIA or Sanfilippo type A syndrome
    官方记录
  • non-replicating recombinant adeno-associated virus (AAV) vector of ser美国2015-12-08
    该药获批用于粘多糖贮积症2型——本病种下的一个亚型
    Treatment of Mucopolysaccharidosis Type II
    官方记录
  • recombinant adeno-associated virus vector serotype 9 expressing human 美国2016-09-01
    Treatment of mucopolysaccharidosis II, also called Hunter syndrome A.
    官方记录
  • 6-(R)-Methyl-5-O-(5-amino-5,6-dideoxy-a-L-talofuranosyl)- paromamine s美国2016-10-18
    Treatment of mucopolysaccharidosis type 1 (MPS I)
    官方记录

另有 24 项未列出。

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 4L2

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 1

  • 招募中NCT06519552
    A Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of JWK008 in Patients With Mucopolysaccharidosis Type I
    I 期 · 干预性 · 2024/07/22West China Hospital
    中国研究中心 1 个：Chengdu
其他状态的试验（3 项）
  • 已完成NCT05134571
    China Post-marketing Surveillance (PMS) Study of Aldurazyme®
    IV 期 · 干预性 · 2021/10/28Genzyme, a Sanofi Company
    中国研究中心 5 个：Beijing、Guangzhou、Hangzhou、Wuhan
  • 已完成NCT05798416
    Effect of Inhalation of Low Dose CO2 on Exercise Performance at High Altitude
    不适用 · 干预性 · 2023/02/15State Key Laboratory of Respiratory Disease
    中国研究中心 1 个：Guangzhou
  • 已完成NCT06393998
    CO2 Supplement for Treatment of Acute Mountain Sickness
    不适用 · 干预性 · 2024/06/07State Key Laboratory of Respiratory Disease
    中国研究中心 1 个：Guangzhou

中国境外的在招试验 43L2

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26法国8英国6西班牙6澳大利亚4德国2加拿大2挪威2新加坡2葡萄牙2瑞典2日本1Russia1意大利1另有 4 个国家/地区

CT.gov 报告命中 43 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT07818759
    Single Injection of rAAV9-CMV-hNAGLUop Gene for Patients With Mucopolysaccharidosis (MPS) IIIB
    I 期、II 期 · 干预性 · 2027/01/18NeuroGT
    美国
  • 尚未开始招募NCT07579910
    Intracerebroventricular Tralesinidase Alfa in Participants With MPS IIIB (Sanfilippo Syndrome Type B)
    III 期 · 干预性 · 2026/12Spruce Biosciences
  • 尚未开始招募NCT07712003
    Natural History to Assess Disease in Patients With MPS IIIC
    观察性 · 2026/11/01Phoenix Nest
    美国
  • 尚未开始招募NCT07640984
    A Phase I/II Trial of JR-446 in Mucopolysaccharidosis Type IIIB (MPS IIIB)
    I 期、II 期 · 干预性 · 2026/09/09JCR Pharmaceuticals Co., Ltd.
    德国、英国、美国
  • 尚未开始招募NCT07666269
    Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis
    不适用 · 干预性 · 2026/09/01University Hospital, Bordeaux
    法国
  • 招募中NCT07591584
    A Study Evaluating the Impact of Regular FODMAP-targeting Digestive Enzyme Blend Use on Gastrointestinal Symptoms in Individuals With Self-Reported Bloating
    不适用 · 干预性 · 2026/05/04Kiwi Health Inc
    美国
  • 招募中NCT06333041
    Study of Cannabidiol in Sanfilippo Syndrome
    II 期、III 期 · 干预性 · 2026/04/01Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
    美国
  • 尚未开始招募NCT07516587
    Study to Investigate the Efficacy of a Digestive Health Dietary Supplement on Post-meal Bloating in Healthy Participants
    不适用 · 干预性 · 2026/04Arrae
    美国
  • 招募中NCT07449143
    Physical Activity Intervention for MPS
    观察性 · 2026/03/20Brunel University
    英国
  • 招募中NCT05858606
    Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
    不适用 · 干预性 · 2026/03/16University Hospital, Montpellier
    法国
  • 招募中NCT07169279
    Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH)
    II 期 · 干预性 · 2025/11/19QED Therapeutics, a BridgeBio company
    澳大利亚、加拿大、挪威、新加坡、西班牙、英国、美国
  • 招募中NCT07361536
    Cardiac Structure and Function in MPS
    观察性 · 2025/09/01Children's Hospital of Orange County
    美国
  • 尚未开始招募NCT07173010
    Pediatric Arthropathy Beyond Inflammation: Clinical Spectrum and Diagnostic Approach at Assiut University Children Hospital
    观察性 · 2025/09Assiut University
  • 尚未开始招募NCT07136896
    Nutritional Assessment in Patient of Mucopolysaccharide "
    不适用 · 干预性 · 2025/08/16Assiut University
  • 招募中NCT06675097
    Assessment of the Impact of Intestinal Gas Emission Quality on the Postoperative Course After Abdominal Surgery
    观察性 · 2025/01/31University Hospital, Angers
    法国

外部标识与链接

OrphanetMONDO:0019249MONDO:19249GARD:7065ICD-11 5C56.3ClinicalTrials.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）