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Rett综合征

Rett syndrome

ORPHA:778疾病中国目录 第2批 · 72

定义 英文原文（暂无中文）

A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements, loss of speech, gait abnormalities, and stereotypic hand movements, commonly associated with deceleration of head growth, severe intellectual disability, seizures, and breathing abnormalities. The disorder has a progressive clinical course and may associate various comorbidities including gastrointestinal diseases, scoliosis, and behavioral disorders.

基本事实

遗传方式
X 连锁显性
发病年龄
婴儿期
患病率
1-9 / 100 000（Europe）

相关基因 1

基因名称关联类型
MECP2methyl-CpG binding protein 2Disease-causing germline mutation(s) in

临床表型 36

极常见 99–80%10

  • 呼吸模式异常 HP:0002793
  • 运动刻板行为 HP:0000733
  • 语言缺失 HP:0001344
  • 发育倒退 HP:0002376
  • 步态异常 HP:0001288
  • 全面发育迟缓 HP:0001263
  • 高调哭声 HP:0025430
  • 渐进式的语言恶化 HP:0007064
  • 渐进性小头畸形 HP:0000253
  • 刻板性手部扭动 HP:0012171

常见 79–30%12

  • 肌张力异常 HP:0003808
  • 运动迟缓 HP:0002067
  • 磨牙症 HP:0003763
  • 寒冷 HP:0033850
  • 肌张力障碍 HP:0001332
  • 脑电图异常 HP:0002353
  • 发育迟滞 HP:0001508
  • 步态异常 HP:0001288
  • 生长延迟 HP:0001510
  • 肢体失用症 HP:0030217
  • 癫痫发作 HP:0001250
  • 骨骼肌萎缩 HP:0003202

偶见 29–5%13

  • 脑脊液丙酮酸家族氨基酸浓度异常 HP:0500231
  • 自主神经系统生理功能异常 HP:0012332
  • 焦虑不安 HP:0000713
  • 胆囊炎 HP:0001082
  • 婴儿型肌张力减退 HP:0008947
  • 高氨血症 HP:0001987
  • 行走不能 HP:0002540
  • 脑脊液乳酸升高 HP:0002490
  • 循环乳酸水平升高 HP:0002151
  • 血清丙酮酸增高 HP:0003542
  • 血清瘦素增加 HP:0031793
  • 脊柱侧弯 HP:0002650
  • 睡眠异常 HP:0002360

罕见 <4–1%1

  • 先天性小头畸形 HP:0011451

近两年的全球研究 1,879L2

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综述
    Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?
    Journal of neuroscience research · DOI · Europe PMC
  • 2026-08
    Mapping Trofinetide Polypharmacology in Rett Syndrome: A Multi-Stage Computational Analysis
    Journal of computational chemistry · DOI · Europe PMC
  • 2026-07
    Tuning Rather Than Replacing: MECP2 Isoform Switching Opens a New Therapeutic Avenue for Rett Syndrome
    Neuroscience bulletin · DOI · Europe PMC
  • 2026-07
    Single-dose administration of therapeutic divalent siRNA targeting MECP2 prevents lethality in an MECP2 duplication mouse model
    Nature communications · DOI · Europe PMC
  • 2026-07综述
    Cytochrome P450-mediated vitamin D and cholesterol metabolism in the pathophysiology of neurodevelopmental disorders
    The Journal of steroid biochemistry and molecular biology · DOI · Europe PMC
  • 2026-07
    Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval
    Clinical genetics · DOI · Europe PMC
  • 2026-07
    Cellular, electrophysiological and behavioral improvements in a mouse model of Rett syndrome following gene therapy combined with focused ultrasound-mediated blood-brain barrier opening
    Experimental neurology · DOI · Europe PMC
  • 2026-07
    Altered vagus nerve stimulation evoked locus coeruleus activity in a rodent model of Rett syndrome
    Brain stimulation · DOI · Europe PMC
  • 2026-07
    Single-cell multiome profiling reveals neuronal bias of modulatory role of MeCP2 phosphorylation
    Neurobiology of disease · DOI · Europe PMC
  • 2026-07
    Consensus definition for developmental regression during childhood
    Developmental medicine and child neurology · DOI · Europe PMC
  • 2026-07综述
    The role of astrocytes in autism spectrum disorder and associated syndromes: Evidence, animal models, mechanisms, and therapeutic potential
    Zoological research · DOI · Europe PMC
  • 2026-07
    Pubertal development and hypothalamic-pituitary-gonadal axis are altered in male mice lacking Mecp2
    Journal of neuroendocrinology · DOI · Europe PMC
  • 2026-07开放获取
    Vagus Nerve Stimulation Paired With Tones Alters the Auditory Cortex Proteome in a Rat Model of Rett Syndrome
    Developmental neurobiology · DOI · Europe PMC
  • 2026-06
    Real-World Demographics, Clinical Characteristics, and Predictors of Persistence Among Males with Rett Syndrome Treated with Trofinetide
    Advances in therapy · DOI · Europe PMC
  • 2026-06开放获取
    Pubertal development and hypothalamic–pituitary–gonadal axis are altered in male mice lacking Mecp2
    Journal of neuroendocrinology
  • 2026-06系统综述
    Efficacy and Safety of Cannabinoid-Based Products in Children and Adolescents with Autism Spectrum Disorder, Fragile X Syndrome and Rett Syndrome: A Systematic Review
    Journal of child and adolescent psychopharmacology · DOI · Europe PMC
  • 2026-06
    Heat shock factor 1 signaling: A novel pathway implicated in Rett syndrome pathophysiology
    The Journal of pharmacology and experimental therapeutics · DOI · Europe PMC
  • 2026-06开放获取
    Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder
    Science advances · DOI · Europe PMC
  • 2026-06综述
    Neural peer pressure: intercellular dynamics and emergent phenotypes in the mosaic Rett syndrome brain
    Cell communication and signaling : CCS · DOI · Europe PMC
  • 2026-06系统综述开放获取
    Effectiveness of interventions to promote social inclusion of people with disabilities in high-income countries: a systematic review of quantitative evaluation studies
    BMJ open · DOI · Europe PMC

境外已获批用于本病的药物 1L2

欧盟 0 项、美国 1 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。

已获孤儿药资格、尚未获批的在研药物（27 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。

  • 3-Chloro-4-fluorophenyl-[4-fluoro-4-{[(5-methylpyrimidin-2-ylmethyl) a欧盟2014-02-19
    Treatment of Rett syndrome
    官方记录
  • sarizotan hydrochloride欧盟2015-07-28
    Treatment of Rett syndrome
    官方记录
  • Daybu欧盟2015-08-10
    Glycyl-L-2-methylprolyl-L-glutamic acid;trofinetide
    Treatment of Rett syndrome
    官方记录
  • cannabidivarin欧盟2017-10-16
    Treatment of Rett syndrome
    官方记录
  • Mercaptamine-pantetheine disulfide欧盟2019-01-11
    Treatment of Rett syndrome
    官方记录
  • 1-(2,2-diphenyltetrahydrofuran-3-yl)-N,N-dimethylmethanamine hydrochlo欧盟2019-08-21
    Treatment of Rett syndrome
    官方记录
  • adeno-associated viral vector serotype 9 containing the human MECP2 ge欧盟2021-08-20
    Treatment of Rett syndrome
    官方记录
  • Methyl(R)-4-((3S,5R,7R,8R,9S,10S,13R,14S,17R)-7-hydroxy-10,13-dimethyl欧盟2022-10-11
    Treatment of Rett syndrome
    官方记录
  • extract from Cannabis flower, containing high levels of cannabidiolic 欧盟2025-03-25
    Treatment of Rett syndrome
    官方记录
  • 2-[[Hydroxy[(R)-2-[((5Z,8Z,11Z,14Z)-eicosa-5,8,11,14-tetraenoyl)oxy]-3欧盟2025-06-20
    Treatment of Rett syndrome
    官方记录
  • fenfluramine hydrochloride欧盟2025-10-20
    Treatment of Rett syndrome
    官方记录
  • 3-chloro-4-fluorophenyl-[4-fluoro-4-[[(5-methylpyrimidin-2-ylmethyl)am美国2013-10-25
    Treatment of Rett syndrome
    官方记录
  • sarizotan美国2015-07-07
    Treatment of Rett syndrome.
    官方记录
  • mecasermin, recombinant human insulin-like growth factor-1美国2015-09-21
    Treatment of Rett Syndrome.
    官方记录
  • (2,2-diphenyl-tetrahydro-furan-3-yl-methyl)-dimethylamine hydrochlorid美国2016-05-18
    Treatment of Rett Syndrome.
    官方记录
  • 6'-(R)-Methyl-5-O-(5-amino-5,6-dideoxy-a-L-talofuranosyl)- paromamine 美国2016-11-03
    Treatment of Rett syndrome
    官方记录
  • cannabidivarin美国2016-11-30
    Treatment of Rett syndrome
    官方记录
  • [(S)-1-(L-valyl)-N_((S)-1-phenyl-2-(pyridin-2-yl)ethyl)pyrrolidine-2-c美国2017-06-22
    Treatment of Rett Syndrome
    官方记录
  • recombinant serotype 9 adeno-associated virus encoding a codon-optimiz美国2020-10-07
    Treatment for Rett syndrome
    官方记录
  • methyl (R)-4-((3S,5R,7R,8R,9S,10S,13R,14S,17R)-7-hydroxy-10,13-dimethy美国2022-04-19
    Treatment of Rett Syndrome
    官方记录
  • Ketamine美国2023-02-01
    Treatment of Rett Syndrome
    官方记录
  • Recombinant serotype 9 adeno-associated virus (AAV) encoding an intron美国2023-02-27
    Treatment of Rett syndrome
    官方记录
  • 1-O-octadecyl-2-arachidonoyl-sn-glycerol-3-phosphoethanolamine美国2023-03-29
    Treatment of Rett syndrome
    官方记录
  • Self-complementary Adeno-Associated Virus 9 containing human methyl-Cp美国2024-03-11
    Treatment of Rett syndrome
    官方记录
  • vorinostat美国2024-05-24
    treatment of Rett syndrome
    官方记录
  • CBDA dominant extract of Cannabis sativa / Low (<0.3% w/w) delta-9-tet美国2024-11-25
    treatment of Rett syndrome
    官方记录
  • (S)-1-(L-Leucyl-L-arginyl)-2-methylpyrrolidine-2-carboxamide美国2026-07-26
    treatment of Rett syndrome
    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 3L2

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

  • 仅邀请入组NCT06739434
    GCB-002 in Treatment of Patients With Rett Syndrome
    不适用 · 干预性 · 2024/11/11Genecombio Ltd.
    中国研究中心 1 个：Shanghai
其他状态的试验（2 项）
  • 已完成NCT06199700
    Esketamine for the Treatment of Rett Syndrome
    早期 I 期 · 干预性 · 2023/11/15Children's Hospital of Fudan University
    中国研究中心 1 个：Xiamen
  • 进行中·不再招募NCT06856759
    Single-Dose AAV-MECP2 Safety/Tolerability and Efficacy in Rett Syndrome
    早期 I 期 · 干预性 · 2025/01/14Guangzhou Women and Children's Medical Center
    中国研究中心 1 个：Guangzhou

中国境外的在招试验 19L2

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13意大利3澳大利亚2法国2西班牙2加拿大1比利时1匈牙利1日本1波兰1哥伦比亚1奥地利1荷兰1

共 19 项。

  • 招募中NCT06840496
    To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome
    III 期 · 干预性 · 2026/09/30Biomed Industries, Inc.
    澳大利亚、美国
  • 尚未开始招募NCT04041713
    A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome
    II 期 · 干预性 · 2026/08/17Holland Bloorview Kids Rehabilitation Hospital
    加拿大
  • 尚未开始招募NCT07730112
    Adapting a Psychosocial Support Intervention for the Rett Syndrome Community
    不适用 · 干预性 · 2026/08/01Colorado State University
    美国
  • 招募中NCT07503444
    A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome
    III 期 · 干预性 · 2026/07/14UCB BIOSCIENCES, Inc.
    比利时、法国、匈牙利、意大利、日本、波兰、西班牙、美国
  • 尚未开始招募NCT07257978
    Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome
    II 期、III 期 · 干预性 · 2026/07/01Fenix Innovation Group
    澳大利亚
  • 招募中NCT07480564
    Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome
    III 期 · 干预性 · 2026/05/08Taysha Gene Therapies, Inc.
    美国
  • 招募中NCT07150013
    Rett REVOLUTION Trial: An Exploratory Evaluation of the Safety and Efficacy of Vorinostat in Rett Syndrome
    I 期 · 干预性 · 2026/03/15Unravel Biosciences, Inc.
    哥伦比亚
  • 招募中NCT07493096
    Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
    观察性 · 2026/03/01Healing Hope International
    美国
  • 招募中NCT07569445
    Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome
    观察性 · 2025/07/31University of Rochester
    美国
  • 招募中NCT07430046
    Repurposing Mirtazapine in Rett Syndrome
    II 期 · 干预性 · 2025/07/09University of Trieste
    意大利
  • 招募中NCT06338267
    Validating Innovative Biosensors for Rett Autonomic Symptom Tracking
    观察性 · 2025/03/03Rett Syndrome Research Trust
    美国
  • 招募中NCT06705816
    Cognitive Function in Rett Syndrome During Trofinetide Treatment
    观察性 · 2024/12/01University of Minnesota
    美国
  • 招募中NCT06430385
    ATTUNE: A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Intrathecally-Administered ION440 in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome (MDS)
    I 期、II 期 · 干预性 · 2024/10/21Ionis Pharmaceuticals, Inc.
    奥地利、法国、西班牙、美国
  • 招募中NCT05932589
    Neurophysiologic Biomarkers in Rett Syndrome
    观察性 · 2023/10/11Children's Hospital of Philadelphia
    美国
  • 招募中NCT05432349
    Rett Syndrome Registry
    观察性 · 2022/08/02International Rett Syndrome Foundation
    美国

外部标识与链接

OrphanetOMIM:312750MONDO:0010726GARD:5696ICD-10 F84.2ICD-11 LD90.4ClinicalTrials.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）