腓骨肌萎缩症/遗传性运动感觉性神经病
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
别名
Charcot-Marie-Tooth遗传性神经病
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁显性、X 连锁隐性
- 发病年龄
- 各年龄段
- 患病率
- 1-5 / 10 000（Europe）
近两年的全球研究 2L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 2 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2025-06综述开放获取Clinical Characteristics of Gait Disturbance in Charcot-Marie-Tooth Disease and Future Directions in Physical Therapy
- 2025-03综述开放获取Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature
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。
已获孤儿药资格、尚未获批的在研药物（25 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。
- ascorbic acid欧盟2008-04-01Treatment of Charcot-Marie-Tooth disease type 1A官方记录
- (RS)-Bacoflen;naltrexone hydrochloride;D-sorbitol欧盟2014-03-26Treatment of Charcot-Marie-Tooth disease type 1A官方记录
- 2-(2-Chlorobenzylidene)hydrazinecarboximidamide acetate欧盟2015-12-14Treatment of Charcot-Marie-Tooth disease官方记录
- 2-[N-(2-hydroxyethyl)]-N-(4-methoxybenzenesulfonyl)]amino-N-(4-chloroc欧盟2017-10-16Treatment of Charcot-Marie-Tooth disease官方记录
- govorestat欧盟2023-05-22Treatment of Charcot-Marie-Tooth disease官方记录
- curcumin欧盟2025-07-18Treatment of Charcot-Marie-Tooth disease官方记录
- allogeneic human Wharton's jelly-derived mesenchymal stem cells欧盟2026-05-20Treatment of Charcot-Marie-Tooth disease官方记录
- Dynamine美国1991-10-16Treatment of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease).官方记录
- ascorbic acid美国2009-05-11Treatment of Charcot-Marie-Tooth disease type 1A.官方记录
- (RS)-baclofen, naltrexone and D-sorbitol美国2014-03-17Treatment of Charcot-Marie-Tooth disease type 1A官方记录
- 2-(2-chlorobenzylidene)hydrazinecarboximidamide acetate美国2015-09-10treatment of Charcot-Marie tooth disease官方记录
- Small molecule mitofusin allosteric activator美国2020-09-04Treatment of Charcot-Marie-Tooth Disease Type 2A官方记录
- allogeneic mesenchymal stem cells derived neuronal regeneration promot美国2022-02-17Treatment of Charcot-Marie-Tooth disease type 1官方记录
- Double-stranded small-interfering ribonucleic acid (siRNA) comprised o美国2023-05-22Treatment of Charcot-Marie-Tooth Disease Type 1A官方记录
- synthetic 2'-O-methoxyethyl phosphorothioate oligoribonucleotide sodiu美国2023-05-31Treatment of Charcot-Marie-Tooth disease, axonal, type 2S (CMT2S)官方记录
- Alpha 1 anti-trypsin (AAT), human alpha 1 anti-trypsin, alpha 1 protei美国2023-07-25Treatment of Charcot-Marie-Tooth Disease官方记录
- AAV-based engineered microRNA targeting conserved regions on the human美国2023-10-04Treatment of Charcot-Marie-Tooth Disease Type 1A官方记录
- Small molecule allosteric mitofusin activator美国2024-06-12Treatment of Charcot-Marie-Tooth Disease官方记录
- 3-Methyl-1-phenylpyrazolo-1,2-naphthoquinone美国2024-10-19treatment of Charcot Marie Tooth disease type 1A官方记录
- AAV9 gene therapy containing codon optimized human FIG4 cDNA coding se美国2024-10-29treatment of Charcot-Marie-Tooth disease type 4J (CMT4J)官方记录
- bromophenoxyazole propanoic acid美国2024-12-02treatment of Charcot Marie Tooth disease官方记录
- human Wharton¿s jelly derived mesenchymal stem cells美国2025-02-27treatment of Charcot-Marie-Tooth disease官方记录
- eukaryotic initiation factor 2B (eIF2B) activating small molecule美国2025-09-30treatment of Charcot-Marie-Tooth disease官方记录
- small molecule mitofusin activator美国2025-10-06Treatment of Charcot-Marie-Tooth disease (CMT)官方记录
- curcuminoid of turmeric (Curcuma longa)美国2025-10-22treatment of Charcot-Marie-Tooth disease (CMT)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 8L2
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 2
- 招募中NCT04010188A Registered Cohort Study on Charcot-Marie-Tooth Disease中国研究中心 1 个：Fuzhou
- 招募中NCT07625020Ultrasound-Guided Nerve Hydrodissection for Diabetic Lower Limb Entrapment Neuropathy中国研究中心 1 个：Chongqing
其他状态的试验（6 项）
- 状态未知NCT04967716Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases中国研究中心 1 个：Beijing
- A Study to Assess the Efficacy and Safety of PXT3003 in Charcot-Marie-Tooth Type 1A中国研究中心 25 个：Beijing、Changchun、Changsha、Fuzhou、Guangzhou、Guiyang 等 21 地
- 进行中·不再招募NCT05156281Efficacy and Safety of Remibrutinib Compared to Teriflunomide in Participants With Relapsing Multiple Sclerosis (RMS) (REMODEL-2)中国研究中心 8 个：Beijing、Hangzhou、Nanjing、Shanghai、Taiyuan、Wenzhou 等 8 地
- 进行中·不再招募NCT05147220Efficacy and Safety of Remibrutinib Compared to Teriflunomide in Participants With Relapsing Multiple Sclerosis (RMS) (REMODEL-1)中国研究中心 10 个：Baotou、Beijing、Changchun、Changsha、Chongqing、Guangzhou 等 10 地
- 状态未知NCT05187260Antisense Oligonucleotide for Spinal Muscular Atrophy中国研究中心 3 个：Beijing、Fuzhou
- 已完成NCT05793437Effects of Permissive Hypercapnia on Concentration of Postoperative Plasma Neurofilament Light中国研究中心 1 个：Jiaxing
中国境外的在招试验 53L2
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11法国9加拿大6意大利6德国5英国4土耳其3澳大利亚3西班牙2比利时2奥地利1智利1挪威1韩国1另有 9 个国家/地区
CT.gov 报告命中 53 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07760636Kinetics and Prognostic Value of NeuroFilament Light in Post-cardiac Arrest: A Prospective Multicenter Study法国
- 招募中NCT07447557Study of Intrathecal ELP-02 for Charcot-Marie-Tooth Disease Type 4J (CMT4J)美国
- 招募中NCT07038239Genotype/Phenotype Correlation of MORC2 Mutations法国
- 尚未开始招募NCT07591779Physical Activity Level at Home in CMT1A Patients: Wearable Sensor Assessment法国
- 尚未开始招募NCT07521722DIV-AD BARCELONA: Alzheimer's Blood-Based Biomakers for a Diverse Community西班牙
- 尚未开始招募NCT07520812Impact of Exercise Training on Serum Neurofilament Light Chain (NfL), Brain Volumetry, and Functional Outcomes in Multiple Sclerosis土耳其
- 招募中NCT07478172Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease美国
- 招募中NCT07321977Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers法国
- 尚未开始招募NCT07066683Pilot Study to Evaluate Fatigue and Fatigability Profiles and Their Impact on Walking and Balance in Patients With Charcot-Marie-Tooth Type 1A Disease Using a Global Approach in Comparison to Healthy Volunteers法国
- 尚未开始招募NCT07432035Walking Function Outcomes Following Surgical Correction With Rehabilitation Versus Physical Therapy Alone in Charcot-Marie-Tooth Disease: A Bidirectional Cohort Study
- 招募中NCT07312994Analysis of NfL and GFAP in Different Dietary Patterns奥地利
- 尚未开始招募NCT07292220A Study of a Blood Marker in Newborns With Brain Injury Caused by Lack of Oxygen at Birth土耳其
- 招募中NCT07414069High-Intensity Laser Therapy in Carpal Tunnel Syndrome: Clinical, Sonographic, and Electrophysiological Outcomes土耳其
- 招募中NCT07140614A First in Human Study to Assess the Safety, Tolerability, and Pharmacokinetics of EDK060 in Adults With CMT1A.加拿大
- 招募中NCT07152197Effects of Resistance Exercises in Hereditary Sensory-Motor Neuropathy (Charcot-Marie-Tooth Disease)智利
外部标识与链接
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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）