多系统萎缩

定义 英文原文（暂无中文）

Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by autonomic failure (cardiovascular and/or urinary), parkinsonism, cerebellar impairment and corticospinal signs with a median survival of 6-9 years.

别名

多系统萎缩

基本事实

遗传方式

多基因/多因素、不适用

发病年龄

成年期

患病率

1-9 / 100 000（Europe）

相关基因 6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。

临床表型 27

近两年的全球研究 3,119L2

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
  Visualizing α-synuclein pathology in live brain: A new platform for Parkinson's disease research
  Clinical and translational medicine · DOI · Europe PMC
• 2026-10综述开放获取
  Cellular and systemic modifiers of alpha-synuclein proteostasis
  Philosophical transactions of the Royal Society of London. Series B, B · DOI · Europe PMC
• 2026-10综述开放获取
  Proteostasis (in)action: the role of co-pathologies in neurodegenerative disease
  Philosophical transactions of the Royal Society of London. Series B, B · DOI · Europe PMC
• 2026-10综述开放获取
  Differential proteostasis imbalance and the molecular basis of distinct synucleinopathies and tauopathies
  Philosophical transactions of the Royal Society of London. Series B, B · DOI · Europe PMC
• 2026-10综述开放获取
  From aggregate structure to disease trajectory: the role of the proteostasis network
  Philosophical transactions of the Royal Society of London. Series B, B · DOI · Europe PMC
• 2026-10开放获取
  Altered Inter-Network Functional Integration Underlies Speech Impairment in Parkinson's Disease: A Resting-State fMRI Analysis
  Brain and behavior · DOI · Europe PMC
• 2026-10开放获取
  Improving Video-Based Prediction of Cerebellar Ataxia Severity Using a Pretrained Deep Learning Model
  Brain and behavior · DOI · Europe PMC
• 2026-10开放获取
  Neural Correlates of Apathy in Multiple System Atrophy: A Clinical and Perfusion Imaging Study
  European journal of neurology · DOI · Europe PMC
• 2026-10
  Comment on the Cerebral Astrocytic Inclusion Pathology in Multiple System Atrophy With a Long Clinical Course
  Neuropathology : official journal of the Japanese Society of Neuropath · DOI · Europe PMC
• 2026-09综述
  The eyes and Parkinsonian syndromes
  Revue neurologique · DOI · Europe PMC
• 2026-09开放获取
  The swallow tail sign: mechanisms, neuroimaging advances and future perspectives
  Insights into imaging · DOI · Europe PMC
• 2026-09
  Plantar-predominant sudomotor dysfunction in multiple system atrophy: a Sudoscan and <sup>123</sup>I-MIBG myocardial scintigraphy study
  Parkinsonism & related disorders · DOI · Europe PMC
• 2026-09
  Preliminary insights into whole-blood mitochondrial DNA copy number and telomere length in Parkinson's disease and multiple system atrophy
  Journal of neurology · DOI · Europe PMC
• 2026-09开放获取
  Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy
  Translational neurodegeneration · DOI · Europe PMC
• 2026-09
  Tonic-dominant sleep bruxism in multiple system atrophy: A polysomnographic comparison with Parkinsonian-related disorders
  Parkinsonism & related disorders · DOI · Europe PMC
• 2026-09随机对照试验开放获取
  Risk of drug-induced liver injury in multiple system atrophy patients treated with KM-819 is potentially associated with the HLA-DPB1*05:01:01:01 allele
  The pharmacogenomics journal · DOI · Europe PMC
• 2026-09开放获取
  Subtle hypometabolism on [<sup>18</sup>F]FDG-PET, yet absent [<sup>123</sup>I]FP-CIT SPECT binding in a patient with spastic paraplegia type 7
  EJNMMI reports · DOI · Europe PMC
• 2026-09开放获取
  Interlocking pentagons task and visuospatial deficit in parkinsonian syndrome: a quantitative approach
  Journal of neurology · DOI · Europe PMC
• 2026-09开放获取
  Hereditary and Non-hereditary Cerebellar Ataxias in Latvia: Six Years of Experience at the National Reference Centre (ERN-RND Affiliated Partner)
  Cerebellum (London, England) · DOI · Europe PMC
• 2026-09
  Distinct EEG functional network alterations in Parkinson's disease and multiple system atrophy
  NeuroImage. Clinical · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

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 46L2

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 25

• 招募中NCT04912843
  Gene Therapy Clinical Trial for the Treatment Of Leber's HereDitary Optic Neuropathy
  II 期、III 期 · 干预性 · 2021/06/18Wuhan Neurophth Biotechnology Limited Company
  中国研究中心 1 个：Beijing
• 仅邀请入组NCT06101940
  Chinese Multicenter Clinical Outcome Cohort Study of Myotonic Dystrophy Type 1 (C-DMCOS-DM1)
  观察性 · 2021/08/01Huashan Hospital
  中国研究中心 22 个：Beijing、Changchun、Chengdu、Chifeng、Chongqing、Fuzhou 等 18 地
• 招募中NCT05824169
  Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 1 Patients
  I 期、II 期 · 干预性 · 2023/02/25GeneCradle Inc
  中国研究中心 4 个：Beijing、Shenyang、Suzhou
• 招募中NCT07392411
  Study on Artificial Intelligence-Based Facial and Speech-Related Patterns in Parkinson's Disease and Their Digital Biomarkers
  观察性 · 2023/07/25Beijing Tiantan Hospital
  中国研究中心 1 个：Beijing
• 招募中NCT06421831
  Evaluation of Safety and Efficacy of Gene Therapy Drug in the Treatment of Spinal Muscular Atrophy (SMA) Type 3 Patients
  I 期、II 期 · 干预性 · 2024/05/10GeneCradle Inc
  中国研究中心 1 个：Beijing
• 招募中NCT06949865
  AI-Enhanced Optimization of Acute Levodopa Challenge Test
  观察性 · 2024/05/28Beijing Tiantan Hospital
  中国研究中心 1 个：Beijing
• 招募中NCT07353463
  Shanghai Clinical Cohort - Parkinson's Disease (Reserve)
  观察性 · 2025/04/01Ruijin Hospital
  中国研究中心 1 个：Shanghai
• 招募中NCT06765733
  The Study of Safety and Preliminary Efficacy of Aleeto in Patients With MultIple System Atrophy
  早期 I 期 · 干预性 · 2025/05/31Beijing Tiantan Hospital
  中国研究中心 1 个：Beijing
• 招募中NCT07644013
  Prospective Multicenter Registry Study of Multiple System Atrophy in China
  观察性 · 2025/06/01Peking University First Hospital
  中国研究中心 1 个：Beijing
• 尚未开始招募NCT06607900
  hUC-MSC-sEV-001 Nasal Drops for Neurodegenerative Diseases
  I 期 · 干预性 · 2025/07/01Xuanwu Hospital, Beijing
  中国研究中心 1 个：Beijing
• 尚未开始招募NCT07036939
  Efficacy and Safety of Bilateral Cervical Lymphatic-Venous Anastomosis in the Treatment of Multiple System Atrophy
  不适用 · 干预性 · 2025/07/01Ruijin Hospital
  中国研究中心 1 个：Shanghai
• 招募中NCT07805967
  Multi-Center Study of Natural History in Atypical Parkinsonian Syndromes (MAPS-NH)
  观察性 · 2025/11/12Second Affiliated Hospital of Soochow University
  中国研究中心 20 个：Changshu、Deyang、Huai'an、Huzhou、Jiaxing、Kunshan 等 17 地
• 招募中NCT07570212
  Individualized Transcranial Magnetic Stimulation in Parkinsonian Disorders
  不适用 · 干预性 · 2025/12/22Peking University First Hospital
  中国研究中心 1 个：Beijing
• 招募中NCT07289477
  A Phase I/III Clinical Study to Evaluate NouvNeu001 Injection for Multiple System Atrophy
  I 期 · 干预性 · 2026/01/05iRegene Therapeutics Co., Ltd.
  中国研究中心 1 个：Beijing
• 招募中NCT07336446
  A Trial to Learn How Safe AZD9750 is and How Well it Works in People With Metastatic Prostate Cancer When Given With or Without Other Anticancer Drugs
  I 期、II 期 · 干预性 · 2026/01/27AstraZeneca
  中国研究中心 1 个：Chengdu
• 尚未开始招募NCT07476456
  Skeletal Muscle Multi-omics Analysis and Risk Tailoring in Sudden Cardiac Death
  观察性 · 2026/03/16China National Center for Cardiovascular Diseases
  中国研究中心 1 个：Beijing
• 招募中NCT07519837
  Study on the Pathogenesis and Reversal Strategies of Cancer Cachexia Based on Multi-Omics
  不适用 · 干预性 · 2026/03/18China Medical University, China
  中国研究中心 1 个：Shenyang
• 尚未开始招募NCT07554807
  A Randomized, Double-blind, Placebo-controlled, Prospective, Multi-center Trial Evaluating the Improvement of Nutritional Status and Sarcopenia With Silkworm Pupa Tablets in Patients With Malignancies
  III 期 · 干预性 · 2026/04/01First Affiliated Hospital of Zhejiang University
  中国研究中心 4 个：Hangzhou
• 尚未开始招募NCT07518810
  Efficacy and Safety of Butylphthalide in the Treatment of Multiple System Atrophy
  II 期、III 期 · 干预性 · 2026/04/10Second Affiliated Hospital, Zhejiang University, School of Medicine
  中国研究中心 6 个：Beijing、Huzhou、Jiaxing、Nanning、Ningbo、Taizhou
• 招募中NCT07670286
  Spatial Multi-omics and Intelligent Early Warning of Pancreatic Cancer Cachexia
  观察性 · 2026/04/24Peking Union Medical College Hospital
  中国研究中心 1 个：Beijing
• 招募中NCT07221669
  A Study to Learn About Salanersen's (BIIB115) Effects on Movement and Its Safety When Given Before Symptoms Appear in Babies With Genetically Diagnosed Spinal Muscular Atrophy (SMA)
  III 期 · 干预性 · 2026/04/28Biogen
  中国研究中心 3 个：Guangzhou、Shanghai、Zhengzhou
• 招募中NCT07514923
  The Study of Safety and Preliminary Efficacy of ALT001 in Patients With MultIple System Atrophy-Cerebellar Type
  早期 I 期 · 干预性 · 2026/06/10yilong Wang
  中国研究中心 1 个：Beijing
• 招募中NCT07604116
  A Study to Evaluate Satety, Tolerability, Biodistribution, Radiation Dosimetry, and Pharmacokinetics of SST001 in Healthy Volunteers, Patients With PD and Patients With MSA
  I 期 · 干预性 · 2026/06/15Synusight Biotech (Shanghai) Co., Ltd.
  中国研究中心 2 个：Shanghai、Wuxi
• 招募中NCT07476352
  Expansion Study of ALT001 in Patients With Multiple System Atrophy
  早期 I 期 · 干预性 · 2026/06/15yilong Wang
  中国研究中心 1 个：Beijing
• 尚未开始招募NCT07774585
  A Prospective Exploratory Study of the Safety and Preliminary Efficacy of the α-Syn H21 Monoclonal Antibody in Patients With Multiple System Atrophy
  I 期 · 干预性 · 2026/09/15Ruijin Hospital
  中国研究中心 1 个：Shanghai

中国境外的在招试验 122L2

CT.gov 报告命中 122 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07808905
  Evaluate the Efficacy and Safety of EN001 in Patients With Sarcopenia
  I 期、II 期 · 干预性 · 2027/03/01ENCell
  韩国
• 尚未开始招募NCT07825402
  A Trial of ONO-2808 in Participants With the Parkinsonian Subtype of Multiple System Atrophy (MSA-P)
  III 期 · 干预性 · 2027/01Ono Pharmaceutical Co., Ltd.
• 尚未开始招募NCT07465198
  Autologous Stem Cell Therapy in Patients With Multiple System Atrophy
  II 期 · 干预性 · 2026/09/01Biocells Medical
  波兰
• 尚未开始招募NCT05522426
  Open Label, Multi-Center Study, Evaluating the Effect of Adipose Tissue Processed With the SyntrFuge™ System for Facial Fat Grafting
  不适用 · 干预性 · 2026/09/01Syntr Health Technologies, Inc.
  美国
• 尚未开始招募NCT04753320
  Remote Monitoring in Progressive Supranuclear Palsy (PSP)
  观察性 · 2026/09/01Massachusetts General Hospital
  美国
• 尚未开始招募NCT07827963
  VisMemoPD Protocol: an Observational Pilot Study on Spatial and Topographical Memory in Patients With Parkinson's Disease and Parkinsonism
  观察性 · 2026/09IRCCS San Raffaele Roma
  意大利
• 尚未开始招募NCT07446907
  Optimizing Adaptive Intensive Behavioral Therapy for Obesity During the Transition to Older Adulthood
  不适用 · 干预性 · 2026/09University of Alabama at Birmingham
  美国
• 尚未开始招募NCT07798609
  A Trial to Assess Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Efficacy of SFL-0821 in Adults With FSHD
  I 期、II 期 · 干预性 · 2026/09Soufflé Therapeutics, Inc.
  澳大利亚、新西兰
• 尚未开始招募NCT07815158
  Multi-Component Nutrition, Intrinsic Capacity, and Physical Function in Older Adults
  不适用 · 干预性 · 2026/08/31National Yang Ming Chiao Tung University
  中国台湾
• 尚未开始招募NCT07740538
  Malnutrition and Sarcopenia Among Primary Ciliary Dyskinesia
  观察性 · 2026/08/03Izmir Democracy University
  土耳其
• 尚未开始招募NCT07740551
  Comparison of Individuals With Primary Ciliary Dyskinesia and Healthy Controls
  观察性 · 2026/08/01Izmir Democracy University
  土耳其
• 尚未开始招募NCT07726498
  STRIDE: Strength of The Calf Muscles and Their Role In Declining Effectiveness of Movement With Aging
  观察性 · 2026/08University of Leicester
  英国
• 招募中NCT07640542
  Test-retest Trial With [11C]MODAG-005 in PD or MSA and AMHC - Pilot Phase
  早期 I 期 · 干预性 · 2026/07/29MODAG GmbH
  德国
• 招募中NCT07531719
  A Study of Risdiplam in Participants With Type I and Type II Spinal Muscle Atrophy (SMA)
  观察性 · 2026/07/22Hoffmann-La Roche
  埃及
• 尚未开始招募NCT07729852
  Open-Label Access to ATH434 for Patients Who Completed Study ATH434-201 in France
  II 期 · 干预性 · 2026/07Alterity Therapeutics
  法国

外部标识与链接