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 2,873L2

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。

• 2026-08
  Nutritional Factors and Weight Loss Predict Tracheostomy-Free Survival in Multiple System Atrophy
  Movement disorders clinical practice · DOI · Europe PMC
• 2026-08
  Type 2 α-Synuclein Seed Amplification as a Diagnostic Reassessment Signal in Parkinson's Progression Markers Initiative Parkinson's Disease
  Movement disorders : official journal of the Movement Disorder Society · DOI · Europe PMC
• 2026-08
  [Multiple system atrophy]
  Fortschritte der Neurologie-Psychiatrie · DOI · Europe PMC
• 2026-08
  Rare Heterozygous Loss-of-Function Variants in MCOLN1 Identified in Two Sporadic Patients with α-Synucleinopathies
  Movement disorders : official journal of the Movement Disorder Society · DOI · Europe PMC
• 2026-08
  Patterns of iron deposition and classification in parkinsonian syndromes: a quantitative susceptibility mapping study
  Journal of neurology · DOI · Europe PMC
• 2026-08
  Magnetic resonance imaging markers predict disease progression in early-stage multiple system atrophy: a 2-year prospective cohort study
  The journals of gerontology. Series A, Biological sciences and medical · DOI · Europe PMC
• 2026-08综述
  Quantitative susceptibility mapping in neurodegenerative diseases: An umbrella review of iron-related biomarkers and mechanisms
  Magnetic resonance imaging · DOI · Europe PMC
• 2026-08
  Vaccines mimicking conformational epitopes on α-synuclein fibrils provide immunity to Parkinson's disease
  Brain : a journal of neurology · DOI · Europe PMC
• 2026-07
  Longitudinal Systemic Transcriptomic Profiling and Neuropathological Deposition of Neutrophil Extracellular Traps in Parkinson's Disease
  Movement disorders : official journal of the Movement Disorder Society · DOI · Europe PMC
• 2026-07
  Early assessment, diagnosis and treatment of Parkinsonism and Related Syndromes study (ExPRESS): a protocol for an observational study on incident parkinsonism
  BMJ open · DOI · Europe PMC
• 2026-07
  Validation of orthostatic hypotension in MDS diagnostic criteria for multiple system atrophy
  European neurology · DOI · Europe PMC
• 2026-07
  Pre-Diagnostic Factors Associated with Coding-Based Incident Multiple System Atrophy: A Nested Case-Control Study of the UK Biobank
  Movement disorders : official journal of the Movement Disorder Society · DOI · Europe PMC
• 2026-07综述
  Multiple system atrophy: cure and care
  Journal of neural transmission (Vienna, Austria : 1996) · DOI · Europe PMC
• 2026-07
  Plasma LC-HRMS metabolomics in parkinsonian syndromes: comparative evaluation of sample preparation protocols for exploratory metabolic signatures
  Analytical and bioanalytical chemistry · DOI · Europe PMC
• 2026-07
  Editorial for "Substantia Nigra Susceptibility-to-Volume Ratio Derived from QSM as a Marker for Discrimination of Progressive Supranuclear Palsy from Parkinson's Disease and Multiple System Atrophy"
  Journal of magnetic resonance imaging : JMRI · DOI · Europe PMC
• 2026-07
  Attitudes in Patients With Prodromal and Overt α-Synucleinopathy Toward Risk Disclosure: A Nationwide Registry
  Movement disorders clinical practice · DOI · Europe PMC
• 2026-07
  Protein-First, but Not Protein-Only: Rethinking Neurodegenerative Diseases Through Transgenic Mouse Models
  Neurology international · DOI · Europe PMC
• 2026-07
  Prospects Are Looking Up for Treatment of Neurogenic Orthostatic Hypotension in Multiple System Atrophy
  Neurology · DOI · Europe PMC
• 2026-07随机对照试验
  Mechanism-Based Therapy With Ampreloxetine for Neurogenic Orthostatic Hypotension in Multiple System Atrophy: A Randomized Withdrawal Trial
  Neurology · DOI · Europe PMC
• 2026-07病例报告
  Adult-Onset Alexander Disease Presenting as Atypical Parkinsonism and Autonomic Dysfunction: A Case Series
  Journal of clinical medicine · 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 44L2

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 24

• 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
• 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
• 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 · 2026/04/06yilong Wang
  中国研究中心 1 个：Beijing
• 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
• 尚未开始招募NCT07476352
  Expansion Study of ALT001 in Patients With Multiple System Atrophy
  早期 I 期 · 干预性 · 2026/05/06yilong Wang
  中国研究中心 1 个：Beijing
• 招募中NCT07657520
  High-Altitude Neurodegeneration Cohort (HANC) Study
  观察性 · 2026/06/13West China Hospital
  中国研究中心 1 个：Chengdu
• 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

中国境外的在招试验 118L2

CT.gov 报告命中 118 项，此处取回并展示最近的 15 项。

• 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
• 尚未开始招募NCT07617012
  The Safety, Tolerability, and Efficacy of Dopaminergic Neural Progenitor Cells (XS411CN Cell Injection) for the Treatment of Multiple System Atrophy Parkinsonian Variant (MSA-P).
  I 期 · 干预性 · 2026/06/15XellSmart Bio-Pharmaceutical (Suzhou) Co., Ltd.
• 尚未开始招募NCT07604883
  Early Molecular Biomarkers for Differentiating Parkinsonian Syndromes
  观察性 · 2026/06/04International Institute of Molecular and Cell Biology in Warsaw
  波兰
• 招募中NCT07617688
  Evaluation of the Pharmacokinetics, Biodistribution and Radiation Dosimetry of [18F]MODAG-009 Positron Emission Tomography (PET) Radiotracers in Adult Healthy Volunteers
  早期 I 期 · 干预性 · 2026/05/27MODAG GmbH
  美国
• 招募中NCT07640555
  Evaluation of [¹⁸F]MODAG-009 PET Imaging in Synucleinopathies
  早期 I 期 · 干预性 · 2026/05/13MODAG GmbH
  美国
• 招募中NCT07390552
  A Study of PLH-2301 in Subjects With Sarcopenia
  II 期 · 干预性 · 2026/05/08Pluto Inc.
  韩国
• 尚未开始招募NCT07567378
  CARTIZ Registry: Cartilage, Arthropathy and Imaging Under Tirzepatide in Zone-stratified Cohorts - A Four-Institute Mexican Observational Registry
  观察性 · 2026/05JULIO GRANADOS MONTIEL
  墨西哥

外部标识与链接