托夫生(Tofersen) - 药物靶点：SOD1_在研适应症：1型肌萎缩侧索硬化，肌萎缩侧索硬化_专利_临床

概要

基本信息

药物类型

ASO

别名

ISIS-SOD1RX、Tofersen (JAN/USAN/INN)、Tofersen Sodium

+ [11]

靶点

SOD1

作用方式

抑制剂

作用机制

SOD1基因抑制剂

治疗领域

神经系统疾病内分泌与代谢疾病其他疾病

在研适应症

1型肌萎缩侧索硬化肌萎缩侧索硬化

非在研适应症-

原研机构

Ionis Pharmaceuticals, Inc.

在研机构

BIOGEN NETHERLANDS BV

Ionis Pharmaceuticals, Inc.

Biogen, Inc.

+ [3]

非在研机构-

权益机构

Biogen, Inc.

Ionis Pharmaceuticals, Inc.

最高研发阶段批准上市

首次获批日期

美国 (2023-04-25),

1型肌萎缩侧索硬化

最高研发阶段(中国)批准上市

特殊审评快速通道 (美国)、加速批准 (美国)、孤儿药 (美国)、孤儿药 (欧盟)、孤儿药 (日本)、孤儿药 (韩国)、孤儿药 (澳大利亚)、特例批准 (欧盟)、优先审评 (美国)、附条件批准 (中国)

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结构/序列

使用我们的RNA技术数据为新药研发加速。

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Sequence Code 530439811

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关联

9

项与托夫生相关的临床试验

NCT07259980

/ Not yet recruitingN/A

An Observational Registry-Based Study to Evaluate the Long-Term Safety of Tofersen in People With SOD1-ALS

In this study, researchers will learn more about the safety of tofersen, also known as Qalsody®. This is a drug available for doctors to prescribe for participant with a certain type of amyotrophic lateral sclerosis, also known as ALS. This type is in participant who have a mutation in the superoxide dismutase 1 gene, also known as SOD-1.
This is known as an "observational" study, which collects health information about study participants without changing their medical care. Participants for this study will be found using 2 different groups of study research centers that help provide clinical care for participant with ALS. These groups are in Europe and the United States and are called:
* the Precision-ALS programme
* the ALS/Motor Neuron Disease (MND) Natural History Consortium (NHC)
The main goal of this study is to collect safety information in participants with SOD-1 ALS who were in either of the groups.
The main question researchers want to answer in this study is:
* What are the characteristics of the participants in this study?
* How many participants had serious adverse events (SAEs), including ones that affect the brain, spinal cord, or nerves?
An adverse event is a health problem that may or may not be caused by a drug during the study. An adverse event is considered serious when it results in death, is life-threatening, causes lasting problems, or requires hospital care.
Researchers will also learn more about:
* How many participants develop other health conditions or become pregnant, including how the pregnancy turned out
* Why and when participants stopped treatment
This study will be done as follows:
* Participants will be screened to check if they can join the study.
* Data from the participants' regular visits to their clinic will be collected based on which study research center they are in.
* Each participant will be in the study until they decide to leave or until death. Currently, the study is planned to last at least 7 years.

开始日期2026-01-19

申办/合作机构

Biogen, Inc.

NCT07223723

/ Recruiting临床4期

A Multicenter, Open-Label, Postmarketing Surveillance Study of Tofersen (BIIB067) in Adults With Amyotrophic Lateral Sclerosis (ALS) Associated With a Mutation in the Superoxide Dismutase 1 (SOD1) Gene in China

In this study, researchers will learn more about the safety of tofersen, also known as Qalsody®. This is a drug available for doctors to prescribe for people with a certain type of amyotrophic lateral sclerosis, also known as ALS. This type is in people who have a mutation in the superoxide dismutase 1 gene, also known as SOD-1.
This is known as a "postmarketing" study. In this kind of the study, the goal is to learn more about how a drug works after it has been approved for use in the general public. Tofersen was approved in China in September 2024. The main goal of this study is to collect long-term safety information in Chinese participants with SOD-1 ALS.
The main question researchers want to answer in this study is:
• How many participants have adverse events (AEs) and serious adverse events (SAEs)?
An AE is a health problem that may or may not be caused by a drug during the study. An AE is considered serious when it results in death, is life-threatening, causes lasting problems, or requires hospital care.
Researchers will also learn more about :
* How the body processes tofersen.
* How much tofersen is found in the cerebrospinal fluid (CSF), or the fluid that surrounds the brain and the spinal cord.
This study will be done as follows:
* Participants will be screened to check if they can join the study. The screening period will be up to 4 weeks.
* After joining the study, participants will receive the first 3 doses of 100 milligrams (mg) of tofersen about 14 days apart. This will be given through an intrathecal (IT) injection. This means it will be given into the fluid surrounding the spine.
* After that, participants will receive 10 more doses every 28 days through IT injections. Participants will have up to 13 total doses of tofersen in this study.
* Participants will have up to 15 visits to their study research center. Each participant will be in the study for up to 52 weeks (1 year).

开始日期2025-12-11

申办/合作机构

Biogen, Inc.

NCT07294144

/ Recruiting临床2期IIT

A Study to Evaluate the Biological Effect of Tofersen in Adults With Amyotrophic Lateral Sclerosis Without Mutations in SOD1

The goal of this clinical trial is to evaluate whether tofersen is safe and effective in adults with non-SOD1 ALS. Tofersen is currently approved by the U.S. Food and Drug Administration to treat SOD1-ALS. The main questions it aims to answer are:
* Does tofersen lower the levels of neurofilament light chain (NfL) in the blood and CSF of adult participants with non-SOD1 ALS?
* Is tofersen safe and tolerable for adult participants with non-SOD1 ALS?
* Does tofersen affect other measurements such as clinical outcomes and quality-of-life measures in participants with non-SOD1 ALS?
Participants will :
* Receive 100mg tofersen via lumbar puncture for 24 weeks. The doses are at the following time points: Weeks 0, 2, 4, 8, 12, 16, 20, and 24.
* Complete 2 follow-up visits following the end of the dosing period at Weeks 28 and 32.
* Complete a variety of questionnaires and outcome measurements such as strength and breathing testing.

开始日期2025-12-01

申办/合作机构

Washington University School of Medicine

[+1]

100 项与托夫生相关的临床结果

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100 项与托夫生相关的转化医学

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100 项与托夫生相关的专利（医药）

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85

项与托夫生相关的文献（医药）

2026-03-01·JOURNAL OF CLINICAL NEUROSCIENCE

Facial-onset SOD1 amyotrophic lateral sclerosis: A case report and systematic review

Review

作者: Milella, Giammarco ; Velucci, Vittorio ; Defazio, Giovanni ; Carlone, Sebastiano ; Luisi, Fedele

BACKGROUND:

Facial-onset weakness is an exceptionally rare presentation of SOD1-associated amyotrophic lateral sclerosis (ALS), and its natural history, anatomical spread, and prognostic implications remain unclear.

METHODS:

We report a woman carrying a heterozygous SOD1 A5T variant who presented with isolated, rapidly progressive bilateral facial palsy, and we performed a PRISMA-compliant systematic review of MEDLINE, Scopus, and Web of Science to identify genetically confirmed SOD1-positive ALS with facial-onset weakness. Case-level demographic, genetic, clinical, neurophysiological, and outcome data were extracted and synthesised descriptively.

RESULTS:

Eleven patients were included (7 men, 4 women; mean age at onset 52.3 years). Seven SOD1 variants were represented, predominantly associated with short survival (e.g. A5V, C7G, A5T). Facial weakness was initially confined to the lower face in 5/11 patients, while 6/11 had combined upper and lower facial involvement. Disease spread followed a stereotyped pattern: early contralateral facial recruitment (mean 3.6 months), rapid bulbar involvement (4.2 months), and later extension to the upper limbs (9.2 months), frequently with side-concordance between facial and arm involvement. Lower motor neuron (LMN) signs predominated in the early phases of the disease. Survival was short (median 16 months), lower than reported for unselected SOD1-ALS cohorts with the same genotypes. Three patients received tofersen, with heterogeneous outcomes.

CONCLUSIONS:

Facial-onset SOD1 ALS defines a distinctive phenotype characterised by LMN-predominant facial palsy in early phases, near-neighbour spread, and an aggressive course exceeding genotype-based expectations. Prompt recognition and genetic testing in progressive facial palsy unresponsive to immunotherapy are essential to ensure access to gene-targeted treatments.

2026-02-01·CURRENT OPINION IN PHARMACOLOGY

Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015–2025)

Review

作者: Povedano, Mónica ; Modamio, Pilar ; Guiu, Josep M ; García-Parra, Beliu

Real-world data (RWD) and real-world evidence (RWE) are becoming essential complements to conventional clinical trials for drug assessment, particularly for rare neuromuscular disorders where small patient populations heighten outcome uncertainty. Robust RWE could reduce that uncertainty and inform regulatory decisions on orphan drugs (ODs). To review how the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA) have incorporated RWE into OD approvals for neuromuscular diseases from January 2015 to January 2025. We reviewed all publicly available EMA European Public Assessment Reports and FDA review packages for ODs targeting neuromuscular indications. Each document was screened for mention of RWD sources and by the regulatory weight assigned to the resulting RWE. We identified 14 OD approvals by the EMA and 13 by the FDA, with greater use of RWE by the FDA. Indications comprised spinal muscular atrophy (3/3 EMA/FDA), amyotrophic lateral sclerosis (1/3), amyloid neuropathies (2/2), Friedreich ataxia (1/1), Lambert-Eaton syndrome (1/1), myasthenia gravis (2/2), myotonic disorders (1/0), and Duchenne muscular dystrophy (2/1). Among 18 evaluable dossiers, clinical outcome assessments (COA) were reported as follows: patient-reported outcomes - 39.1%, clinician-reported outcomes - 34.7%, observer-reported outcomes - 13.1 %, and performance outcomes - 13.1%. Only tofersen incorporated all COA types. The use of RWE for the evaluation of ODs is increasing for both the FDA and the EMA, more so for the former than for the latter. Harmonized methodological standards and transparent reporting frameworks are urgently needed to generate quality evidence that benefits stakeholders.

2026-01-07·Central nervous system agents in medicinal chemistry

New Drug Therapies Against Targeting Neurodegenerative Diseases: A Comprehensive Review

Article

作者: Martínez-Padrón, Hadassa Yuef ; Torres-Castillo, Jorge Ariel ; Herrera-Mayorga, Elsa Verónica ; González-Jiménez, Karen Alejandra ; Paredes Sánchez, Francisco Alejandro ; Sánchez-Sánchez, Mario ; Niño-García, Nohemí

Neurodegenerative diseases encompass well-characterized behavioral, cognitive, and movement disorders that affect older people, impacting all facets of daily life. In Alzheimer's disease, specific antibodies targeting the β-amyloid protein (aducanumab, lecanemab, and others) are gaining special interest due to the approval of the first particular drugs against this disease. In Parkinson's disease, most drugs were approved several decades ago; however, new Phase II clinical trials point to monoclonal antibodies as a promising approach, and the report of alkaloids also suggests various therapeutic targets against this disease. Pick’s disease has a low prevalence; currently, no drugs are approved by government agencies. However, thanks to molecular tools, it has been possible to elucidate therapeutic targets implicated in the appearance of the disease. α-synuclein is the main therapeutic target in Lewy body disease; most of the reported molecules are in clinical Phases I and II. Additionally, drug repositioning may emerge as a viable option in the search for effective treatments against this disease. In amyotrophic lateral sclerosis, the appearance of newly approved drugs such as tofersen and edaravone, and some others in clinical Phase II (bosutinib), opens a new era in the understanding and treatment of this condition. Altered emotions and progressive damage in some brain regions characterize schizophrenia and vascular dementia. Combinations of tricyclic drugs are a trend that aims to increase the cognitive performance of patients with schizophrenia. In vascular dementia, numerous in vivo trials with molecules of different natures (flavonoids and lactones) have yielded positive results, delaying the progression of the disease. This review examines recent reports on molecules evaluated in vivo and in vitro models of the primary neurodegenerative diseases.

608

项与托夫生相关的新闻（医药）

2026-01-26

·进行性肌营养不良肢带型

全球首个SOD1基因渐冻症托夫生注射液凯盛迪在中国上市

渐冻症，又称肌萎缩侧索硬化症（ALS），是一种令人闻之色变的罕见病。患者大脑、脑干和脊髓中的运动神经细胞会逐渐凋亡，肌肉从四肢末端开始萎缩，最终全身瘫痪，意识清醒却无法言语、吞咽，呼吸依赖机器维持。全球每10万人中约有2-5人患病，中国患者约10-20万，确诊后平均生存期仅3-5年。自1869年法国医生首次描述该病以来，人类与渐冻症的较量漫长而艰难。如今，在包括患者、科研人员、药企在内的多方共同努力下，治疗领域正迎来从对症支持到对因干预的深刻变革，为不同亚型的患者带来了新的曙光。患者驱动研发：蔡磊与科研攻坚新生态 2019年确诊渐冻症后，蔡磊以商业精英的魄力投身科研攻坚。他搭建了全球最大的渐冻症患者科研数据平台之一，注册患者超1.5万例；通过其团队推动超过300条药物管线的探索，其中数十条已进入临床阶段。这种“患者驱动”的研发模式，通过链接海量患者数据、建立脑组织样本库等方式，显著加速了科研进程。蔡磊精准治疗破冰：已上市的靶向药物在众多探索中，最引人注目的突破是精准靶向治疗药物的问世。需要明确的是，全球首个也是目前唯一一个在中国获批上市、针对明确致病基因（SOD1）的渐冻症对因治疗药物，是托夫生注射液（商品名：凯盛迪）。该药物于2024年9月在中国获批，并于2025年6月正式商业上市，标志着我国渐冻症治疗正式迈入“精准靶向干预”的新时代。托夫生是一种反义寡核苷酸药物，可直接作用于SOD1基因的mRNA，减少毒性SOD1蛋白的生成，从源头上延缓疾病进展。临床数据显示，该药物能显著降低患者血液中的神经丝轻链蛋白（一种神经损伤的标志物）水平。目前，该药已在北京、西安等多个城市落地使用。未来之星：处于临床阶段的在研疗法在托夫生之后，更多针对不同靶点的创新疗法正在紧锣密鼓地研发中，其中就包括蔡磊团队所推动的RAG-17。 RNA干扰技术 RAG-17的客观定位：RAG-17是一款针对SOD1基因突变的在研双链小干扰RNA药物，其作用机制与托夫生类似。它与托夫生并非同一药物，也非“全球首个”。根据公开信息，RAG-17于2023年获得美国FDA孤儿药资格，于2024年先后获得美国FDA和中国国家药监局的临床试验许可。目前，该药物正在中国进行I期临床试验，主要目的是评估其在SOD1-ALS患者中的安全性、耐受性和药代动力学。这是一项必要的早期研究，样本量较小（计划入组6例患者），旨在为后续研究探索合适的剂量。任何关于其疗效的描述，都需等待未来更大规模的II、III期临床试验结果来证实。更广阔的研发图景：中国渐冻症治疗研究是多元化的。例如，清华大学团队研发的全球首款以TRIM72为靶点的基因治疗药物SNUG01，已获美国FDA临床试验许可，因其广谱潜力而备受关注。北京大学第三医院团队也在探索硝酮嗪等新的化学药物。此外，针对FUS基因突变等其它亚型的基础研究也在不断深入，为未来新药研发提供线索。严峻的现实：挑战与出路并存尽管曙光初现，但渐冻症治疗仍面临巨大挑战。治疗可及性之困：已上市的精准靶向药仅适用于携带特定基因突变（如SOD1）的患者，这类患者在中国的ALS患者中约占2%-6%。而占病例总数90%以上的散发型渐冻症患者，目前仍缺乏明确病因的靶向药物。费用支付之难：创新药物研发成本高昂，年治疗费用可能高达数十万甚至上百万元人民币，普通家庭难以负担。目前，虽然部分地区通过惠民保等补充医疗保险提供了一定支持，但全国性、普惠性的支付保障体系尚未完全建立。研发本身之艰：神经退行性疾病的药物研发是全球性难题，失败率高、周期长。即便是已获批的药物，其效果也主要是延缓疾病进展，而非根治。面对挑战，出路在于多方合力：持续加速科研，破解散发型治疗困局；推动政策与支付创新，构建“医保+商保+社会援助”的多层次保障体系；同时，借助护理机器人、脑机接口等辅助技术，全方位改善患者生活质量。结语从无药可用到对因治疗药物上市，中国渐冻症治疗领域在短短几年内取得了历史性跨越。蔡磊作为患者代表，以其悲壮的努力极大地推动了公众关注和科研生态的构建。然而，我们必须清醒认识到，RAG-17等众多在研疗法仍是“未来之星”，其成败有待科学验证；而托夫生的上市也只是迈出了精准治疗的第一步。真正的希望之光，源于对科学的尊重、对现实的直面以及社会系统性的支持。正如一位临床专家所言，对于有明确基因靶点的患者，“早发现、早诊断、早治疗”至关重要。而对于所有渐冻症家庭而言，前路虽仍崎岖，但行动已有方向，改变正在发生。唯有将个体的抗争转化为系统性的合力，才能为“解冻”生命赢得更多的时间与尊严。

上市批准孤儿药寡核苷酸信使RNA核酸药物

2026-01-26

·罕见病

渐冻症治疗新进展：多元探索中的希望之光

渐冻症，又称肌萎缩侧索硬化症（ALS），是一种令人闻之色变的罕见病。患者大脑、脑干和脊髓中的运动神经细胞会逐渐凋亡，肌肉从四肢末端开始萎缩，最终全身瘫痪，意识清醒却无法言语、吞咽，呼吸依赖机器维持。全球每10万人中约有2-5人患病，中国患者约10-20万，确诊后平均生存期仅3-5年。自1869年法国医生首次描述该病以来，人类与渐冻症的较量漫长而艰难。如今，在包括患者、科研人员、药企在内的多方共同努力下，治疗领域正迎来从对症支持到对因干预的深刻变革，为不同亚型的患者带来了新的曙光。患者驱动研发：蔡磊与科研攻坚新生态 2019年确诊渐冻症后，蔡磊以商业精英的魄力投身科研攻坚。他搭建了全球最大的渐冻症患者科研数据平台之一，注册患者超1.5万例；通过其团队推动超过300条药物管线的探索，其中数十条已进入临床阶段。这种“患者驱动”的研发模式，通过链接海量患者数据、建立脑组织样本库等方式，显著加速了科研进程。蔡磊精准治疗破冰：已上市的靶向药物在众多探索中，最引人注目的突破是精准靶向治疗药物的问世。需要明确的是，全球首个也是目前唯一一个在中国获批上市、针对明确致病基因（SOD1）的渐冻症对因治疗药物，是托夫生注射液（商品名：凯盛迪）。该药物于2024年9月在中国获批，并于2025年6月正式商业上市，标志着我国渐冻症治疗正式迈入“精准靶向干预”的新时代。托夫生是一种反义寡核苷酸药物，可直接作用于SOD1基因的mRNA，减少毒性SOD1蛋白的生成，从源头上延缓疾病进展。临床数据显示，该药物能显著降低患者血液中的神经丝轻链蛋白（一种神经损伤的标志物）水平。目前，该药已在北京、西安等多个城市落地使用。未来之星：处于临床阶段的在研疗法在托夫生之后，更多针对不同靶点的创新疗法正在紧锣密鼓地研发中，其中就包括蔡磊团队所推动的RAG-17。 RNA干扰技术 RAG-17的客观定位：RAG-17是一款针对SOD1基因突变的在研双链小干扰RNA药物，其作用机制与托夫生类似。它与托夫生并非同一药物，也非“全球首个”。根据公开信息，RAG-17于2023年获得美国FDA孤儿药资格，于2024年先后获得美国FDA和中国国家药监局的临床试验许可。目前，该药物正在中国进行I期临床试验，主要目的是评估其在SOD1-ALS患者中的安全性、耐受性和药代动力学。这是一项必要的早期研究，样本量较小（计划入组6例患者），旨在为后续研究探索合适的剂量。任何关于其疗效的描述，都需等待未来更大规模的II、III期临床试验结果来证实。更广阔的研发图景：中国渐冻症治疗研究是多元化的。例如，清华大学团队研发的全球首款以TRIM72为靶点的基因治疗药物SNUG01，已获美国FDA临床试验许可，因其广谱潜力而备受关注。北京大学第三医院团队也在探索硝酮嗪等新的化学药物。此外，针对FUS基因突变等其它亚型的基础研究也在不断深入，为未来新药研发提供线索。严峻的现实：挑战与出路并存尽管曙光初现，但渐冻症治疗仍面临巨大挑战。治疗可及性之困：已上市的精准靶向药仅适用于携带特定基因突变（如SOD1）的患者，这类患者在中国的ALS患者中约占2%-6%。而占病例总数90%以上的散发型渐冻症患者，目前仍缺乏明确病因的靶向药物。费用支付之难：创新药物研发成本高昂，年治疗费用可能高达数十万甚至上百万元人民币，普通家庭难以负担。目前，虽然部分地区通过惠民保等补充医疗保险提供了一定支持，但全国性、普惠性的支付保障体系尚未完全建立。研发本身之艰：神经退行性疾病的药物研发是全球性难题，失败率高、周期长。即便是已获批的药物，其效果也主要是延缓疾病进展，而非根治。面对挑战，出路在于多方合力：持续加速科研，破解散发型治疗困局；推动政策与支付创新，构建“医保+商保+社会援助”的多层次保障体系；同时，借助护理机器人、脑机接口等辅助技术，全方位改善患者生活质量。结语从无药可用到对因治疗药物上市，中国渐冻症治疗领域在短短几年内取得了历史性跨越。蔡磊作为患者代表，以其悲壮的努力极大地推动了公众关注和科研生态的构建。然而，我们必须清醒认识到，RAG-17等众多在研疗法仍是“未来之星”，其成败有待科学验证；而托夫生的上市也只是迈出了精准治疗的第一步。真正的希望之光，源于对科学的尊重、对现实的直面以及社会系统性的支持。正如一位临床专家所言，对于有明确基因靶点的患者，“早发现、早诊断、早治疗”至关重要。而对于所有渐冻症家庭而言，前路虽仍崎岖，但行动已有方向，改变正在发生。唯有将个体的抗争转化为系统性的合力，才能为“解冻”生命赢得更多的时间与尊严。

上市批准孤儿药寡核苷酸信使RNA临床3期

2026-01-26

·渐冻小助手

渐冻症治疗有新突破！这几种药物或能改写患者命运，你知道吗？

点击蓝字关注我们渐冻症（肌萎缩侧索硬化症，ALS）是一种进行性神经退行性疾病，以运动神经元不可逆死亡为特征，患者会逐渐失去肌肉控制能力，最终因呼吸衰竭而危及生命。尽管目前尚无根治方法，但药物研发已取得突破性进展，从传统对症治疗转向针对病因的精准干预。本文将系统梳理当前渐冻症治疗药物格局，涵盖已上市药物、在研创新疗法及未来方向。一、传统治疗药物：延缓病情进展的基石 1. 利鲁唑：唯一获批的疾病修饰药物利鲁唑是FDA批准的首个ALS治疗药物，通过抑制谷氨酸释放减少神经元兴奋性毒性。多项临床试验证实，其可延长患者生存期3-6个月，尤其对延髓功能受损患者效果显著。使用要点：需长期规律服用，不可自行调整剂量；常见副作用包括乏力、恶心，需定期监测肝功能；孕妇及哺乳期女性需严格评估风险。 2. 依达拉奉：抗氧化损伤的“清道夫” 作为自由基清除剂，依达拉奉可减轻氧化应激对运动神经元的损伤。日本及中国临床研究显示，其能延缓ALS功能衰退约25%，尤其适用于轻中度患者。使用要点：需静脉滴注给药，治疗周期较长；需监测肾功能，严重肾功能不全者慎用；可能引发皮疹、肝功能异常等不良反应。 3. 对症支持药物：缓解痛苦，提升生活质量巴氯芬/替扎尼定：缓解肌肉痉挛，改善肌张力增高，但需警惕嗜睡、头晕等副作用；甲钴胺：作为维生素B12衍生物，辅助改善神经传导功能，对肢体麻木、肌肉萎缩有辅助效果；苯妥英钠/奎宁硫酸盐：针对特定患者的肌肉抽搐症状，需严格监测肝功能及电解质水平。二、创新疗法：针对病因的精准突破 1. 托夫生注射液：全球首个ALS对因治疗药物 2025年，渤健公司研发的托夫生（反义寡核苷酸，ASO）在日本上市，成为首个针对SOD1基因突变的ALS治疗药物。通过靶向突变SOD1的mRNA，托夫生可减少毒性蛋白合成，从而延缓疾病进展。临床数据：在SOD1突变患者中，托夫生可降低脑脊液中SOD1蛋白水平约60%； Ⅲ期试验显示，治疗6个月后患者运动功能衰退速度减缓33%。适用人群：携带SOD1基因突变的家族性ALS患者（占家族性病例的30%）；散发性ALS中约2%的SOD1突变携带者。 2. 基因疗法：从“修正基因”到“长期控病” 基于腺相关病毒（AAV）的基因疗法通过递送功能基因或调控元件，实现对致病机制的长期干预。例如： SNUG01（中国神济昌华）：通过AAV递送SG001基因，覆盖SOD1、C9orf72、FUS等多种突变类型，已进入研究者发起试验（IIT）阶段； RJK002（中国瑞吉康）：利用解聚多肽技术，针对TDP-43、FUS等蛋白聚集型ALS，通过分解异常蛋白聚集体延缓病情。 3. 细胞疗法：再生医学的希望之光 XS228注射液（中国士泽生物）：通过诱导多能干细胞分化为运动神经元或胶质细胞，替代受损组织并分泌神经营养因子，已启动中美双报I/II期试验； NurOwn®（美国BrainStorm）：基于自体间充质干细胞，通过分泌神经营养因子调节免疫微环境，Ⅲ期试验显示对部分患者运动功能有改善趋势。三、未来方向：多技术融合与早期干预 1. 联合疗法：多靶点阻断病理进程传统药物（如利鲁唑）与创新疗法（如ASO）的组合试验正在探索中。例如，托夫生与利鲁唑联用可能通过减少毒性蛋白合成和抑制谷氨酸毒性，实现协同效应。 2. AI驱动药物发现：加速新靶点验证 Verge Genomics等公司利用AI平台筛选化合物，已发现VRG50635等针对PIKfyve、STMN2等新靶点的候选药物，有望填补传统疗法空白。 3. 预防性治疗：构建“风险评估-早期干预”体系通过基因筛查识别SOD1/C9orf72突变携带者，利用托夫生等ASO药物开展预防性治疗，可能推迟甚至阻止症状发作。例如，日本已建立ALS高风险人群登记制度，为早期干预提供基础。四、患者须知：科学用药与综合管理个体化治疗：ALS异质性强，需根据基因型、疾病阶段选择药物。例如，SOD1突变患者优先选择托夫生，而散发性患者可尝试利鲁唑+依达拉奉组合。定期监测：治疗期间需定期评估肝功能、肾功能及运动功能（如ALSFRS-R评分），及时调整方案。综合干预：药物需与呼吸支持、营养管理、康复训练等结合。例如，当用力肺活量（FVC）低于50%时，应启动无创通气；吞咽困难患者需改用糊状食物，必要时行胃造瘘术。参与临床试验：目前全球有超200项ALS临床试验在研，患者可通过正规渠道登记，获取最新治疗机会。渐冻症的治疗已从“对症缓解”迈入“对因干预”时代。随着托夫生、基因疗法、细胞疗法等创新技术的涌现，患者生存期和生活质量有望显著提升。未来，随着AI药物发现、预防性治疗等策略的推进，ALS或许将成为首个被基因与细胞疗法攻克的神经退行性疾病。对于患者而言，早期诊断、科学用药与综合管理仍是延长生存期的关键——每一份坚持，都在为“解冻”争取时间。五、确诊渐冻症如何治疗？中医治疗渐冻症有其独特的优势。王世龙医师采用中西医结合的综合疗法，其中核心是中药治疗。他会根据您的具体病情和体质，精心选配多种中草药，通过调整人体的气血、阴阳平衡，达到改善病情、缓解症状的目的。比如他的“五龙荣肌汤”，是他凭借多年临床经验和深厚的中医理论功底调配出来的，很多患者服用后症状都有明显改善，而且中药的副作用相对较小。在西药治疗效果不稳定、副作用大的情况下，中医是一个很好的选择。王世龙中医师指出："中医调理渐冻症必须遵循'辨证论治'原则，每位患者的体质和症状表现各不相同，必须通过详细问诊和舌脉辨证，才能制定个性化的调理方案。我们采用'一人一方'精准治疗模式，根据患者具体证型（如肝肾阴虚、气血两虚等）配伍相应中药。现提供两种就诊方式：1.北京面诊（可现场把脉问诊）；2.远程视频看诊（适合异地患者），两种方式均能提供精准、有效的治疗。” 微信 18534938512 扫码咨询治疗

信使RNA寡核苷酸基因疗法临床3期申请上市

100 项与托夫生相关的药物交易

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外链

KEGG	Wiki	ATC	Drug Bank
D11811	-	-	DB14782

研发状态

批准上市

10 条最早获批的记录,

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适应症	国家/地区	公司	日期
1型肌萎缩侧索硬化	美国	Biogen MA, Inc.	2023-04-25

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10 条进展最快的记录,

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适应症	最高研发状态	国家/地区	公司	日期
肌萎缩侧索硬化	临床2期	美国	Biogen, Inc.	2025-12-01

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适应症

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研究	分期	人群特征	评价人数	分组	结果	评价	发布日期


NCT03070119 (CTgov)	临床3期	1型肌萎缩侧索硬化	139	233AS101 (233AS101: Part C (Prior Placebo))	繭餘選蓋窪淵構衊壓遞 = 壓夢鬱顧憲蓋鏇鑰淵網網夢衊夢顧淵襯觸鑰衊 (製窪餘醖膚鏇壓廠鹽襯, 蓋積繭鏇網範鹽廠選鬱 ~ 築衊糧網齋鏇襯積壓鬱) 更多	-	2025-08-29
				BIIB067 (233AS101: Part C (Prior BIIB067 100 mg))	繭餘選蓋窪淵構衊壓遞 = 繭淵醖積艱膚淵蓋艱餘網夢衊夢顧淵襯觸鑰衊 (製窪餘醖膚鏇壓廠鹽襯, 襯齋觸齋顧夢壓選遞鹽 ~ 糧餘膚鏇積衊憲襯繭衊) 更多
MDA2025	N/A	肌萎缩侧索硬化	214	Riluzole formulations	襯壓繭襯繭選壓鹽獵夢(鏇襯遞齋壓積憲觸鹽遞) = 製願夢蓋鏇鬱鏇鹹製遞鬱選願鏇窪糧膚憲網觸 (鬱願衊艱觸願鹽衊築壓 ) 更多	积极	2025-03-16
				Riluzole formulations (specialist centers)	簾鹹顧鹽艱壓製顧繭膚(繭鏇鹽築齋醖遞築鑰鹹) = 繭醖襯顧襯糧鹹顧選網鹽襯艱淵蓋選蓋廠憲觸 (簾顧範範衊齋衊獵鏇夢 ) 更多
NCT03070119 \| NCT02623699 (VALOR, Company_Website) 人工标引	临床3期	1型肌萎缩侧索硬化 SOD1 mutation	-	Qalsody Intrathecal Injection 100mg	鑰繭積顧餘淵獵窪築膚(範製鏇夢製鹹憲襯願餘) = 網蓋廠醖憲糧襯鑰鑰網選築夢觸糧構糧製鹽顧 (獵鑰窪窪夢艱觸醖範膚 )	积极	2024-12-27
NCT02623699 (FDA) 人工标引	临床3期	1型肌萎缩侧索硬化 SOD1 Mutation	108	QALSODY 100 mg (ITT population)	窪願憲鹹醖膚築鹹積築(膚膚網夢淵蓋選積鬱襯) = 窪艱醖襯願構壓憲築艱鹽獵鹹醖壓膚餘壓窪遞 (製選構膚艱願顧鹹鏇選 ) 更多	积极	2023-04-25
				Placebo (ITT population)	窪願憲鹹醖膚築鹹積築(膚膚網夢淵蓋選積鬱襯) = 餘製鏇齋鏇壓繭鹹壓衊鹽獵鹹醖壓膚餘壓窪遞 (製選構膚艱願顧鹹鏇選 ) 更多
NCT02623699 (VALOR, Pubmed \| Br Dent J \| N Engl J Med) 人工标引	临床3期	1型肌萎缩侧索硬化 SOD1 Mutation	108	Tofersen	構鹹壓鹽簾構顧遞網齋(艱膚觸襯鏇獵獵艱淵壓) = 糧醖餘糧製餘壓壓選鹹顧襯膚艱襯淵鬱醖夢膚 (齋齋觸廠構簾鹽遞艱遞 )	不佳	2022-09-22
				placebo	構鹹壓鹽簾構顧遞網齋(艱膚觸襯鏇獵獵艱淵壓) = 鹹觸鹹壓鬱鏇鏇艱醖鬱顧襯膚艱襯淵鬱醖夢膚 (齋齋觸廠構簾鹽遞艱遞 )
NCT02623699 (VALOR, Corporate Publications) 人工标引	临床3期	1型肌萎缩侧索硬化 SOD1	108	Tofersen	積餘衊糧鹹網選憲淵觸(蓋壓願蓋壓觸遞顧淵顧) = 鏇餘積衊襯齋淵願憲窪衊鹹窪鬱鏇淵淵積廠製 (夢糧製築製簾艱繭糧餘 )	积极	2022-06-03
				Placebo	積餘衊糧鹹網選憲淵觸(蓋壓願蓋壓觸遞顧淵顧) = 壓艱衊繭淵繭衊獵網顧衊鹹窪鬱鏇淵淵積廠製 (夢糧製築製簾艱繭糧餘 )
NCT02623699 (VALOR, Corporate Publications) 人工标引	临床3期	1型肌萎缩侧索硬化 SOD1 mutation	108	tofersen	範網醖鑰顧築鹽願廠廠(夢繭襯壓衊簾網襯衊鹽) = 壓製餘觸鏇選襯夢醖遞鑰醖蓋築鹹積選艱襯醖 (餘構鬱糧醖夢觸夢糧齋 ) 更多	积极	2021-10-17
				Placebo	範網醖鑰顧築鹽願廠廠(夢繭襯壓衊簾網襯衊鹽) = 網繭觸構鹹膚繭顧憲製鑰醖蓋築鹹積選艱襯醖 (餘構鬱糧醖夢觸夢糧齋 ) 更多
NCT02623699 (VALOR, Pubmed \| Br Dent J \| N Engl J Med) 人工标引	临床1/2期	1型肌萎缩侧索硬化 SOD1 Mutation	50	Tofersen	糧壓淵鑰窪衊糧範艱壓(艱範窪廠餘餘衊範衊製) = 廠醖獵範艱鑰衊範衊網顧廠淵積齋繭鹹窪範夢 (選選淵膚憲壓膚鹽衊鑰 ) 更多	积极	2020-07-09
				Placebo	壓獵遞窪廠糧鏇鹹廠繭(構鑰襯壓蓋製膚繭網簾) = 憲顧繭鑰鑰襯憲餘積膚壓觸鏇淵構鏇鬱夢遞糧 (齋選鹹壓廠繭膚顧鏇淵 )
NCT01041222 (Pubmed) 人工标引	临床1期	1型肌萎缩侧索硬化 SOD1 Mutation	32	ISIS 333611	簾壓觸壓艱製襯廠範齋(鹹鑰積鏇壓鑰齋夢蓋遞) = 壓鬱遞願簾鹹壓壓蓋觸壓醖膚顧鬱夢範糧醖鬱 (構糧齋糧鑰繭齋憲壓觸 ) 更多	积极	2013-05-01
				Placebo	-