Rett综合征
Rett syndrome
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 |
|---|---|---|
| MECP2 | methyl-CpG binding protein 2 | Disease-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?
- 2026-08Mapping Trofinetide Polypharmacology in Rett Syndrome: A Multi-Stage Computational Analysis
- 2026-07Tuning Rather Than Replacing: MECP2 Isoform Switching Opens a New Therapeutic Avenue for Rett Syndrome
- 2026-07Single-dose administration of therapeutic divalent siRNA targeting MECP2 prevents lethality in an MECP2 duplication mouse model
- 2026-07综述Cytochrome P450-mediated vitamin D and cholesterol metabolism in the pathophysiology of neurodevelopmental disorders
- 2026-07Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval
- 2026-07Cellular, electrophysiological and behavioral improvements in a mouse model of Rett syndrome following gene therapy combined with focused ultrasound-mediated blood-brain barrier opening
- 2026-07Altered vagus nerve stimulation evoked locus coeruleus activity in a rodent model of Rett syndrome
- 2026-07Single-cell multiome profiling reveals neuronal bias of modulatory role of MeCP2 phosphorylation
- 2026-07Consensus definition for developmental regression during childhood
- 2026-07综述The role of astrocytes in autism spectrum disorder and associated syndromes: Evidence, animal models, mechanisms, and therapeutic potential
- 2026-07Pubertal development and hypothalamic-pituitary-gonadal axis are altered in male mice lacking Mecp2
- 2026-07开放获取Vagus Nerve Stimulation Paired With Tones Alters the Auditory Cortex Proteome in a Rat Model of Rett Syndrome
- 2026-06Real-World Demographics, Clinical Characteristics, and Predictors of Persistence Among Males with Rett Syndrome Treated with Trofinetide
- 2026-06开放获取Pubertal development and hypothalamic–pituitary–gonadal axis are altered in male mice lacking Mecp2
- 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
- 2026-06Heat shock factor 1 signaling: A novel pathway implicated in Rett syndrome pathophysiology
- 2026-06开放获取Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder
- 2026-06综述Neural peer pressure: intercellular dynamics and emergent phenotypes in the mosaic Rett syndrome brain
- 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
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。
- Daybue美国2023-03-10trofinetide官方记录
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2014-02-19Treatment of Rett syndrome官方记录
- sarizotan hydrochloride欧盟2015-07-28Treatment of Rett syndrome官方记录
- Daybu欧盟2015-08-10Glycyl-L-2-methylprolyl-L-glutamic acid;trofinetideTreatment of Rett syndrome官方记录
- cannabidivarin欧盟2017-10-16Treatment of Rett syndrome官方记录
- Mercaptamine-pantetheine disulfide欧盟2019-01-11Treatment of Rett syndrome官方记录
- 1-(2,2-diphenyltetrahydrofuran-3-yl)-N,N-dimethylmethanamine hydrochlo欧盟2019-08-21Treatment of Rett syndrome官方记录
- adeno-associated viral vector serotype 9 containing the human MECP2 ge欧盟2021-08-20Treatment 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2022-10-11Treatment of Rett syndrome官方记录
- extract from Cannabis flower, containing high levels of cannabidiolic 欧盟2025-03-25Treatment 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2025-06-20Treatment of Rett syndrome官方记录
- fenfluramine hydrochloride欧盟2025-10-20Treatment of Rett syndrome官方记录
- 3-chloro-4-fluorophenyl-[4-fluoro-4-[[(5-methylpyrimidin-2-ylmethyl)am美国2013-10-25Treatment of Rett syndrome官方记录
- sarizotan美国2015-07-07Treatment of Rett syndrome.官方记录
- mecasermin, recombinant human insulin-like growth factor-1美国2015-09-21Treatment of Rett Syndrome.官方记录
- (2,2-diphenyl-tetrahydro-furan-3-yl-methyl)-dimethylamine hydrochlorid美国2016-05-18Treatment of Rett Syndrome.官方记录
- 6'-(R)-Methyl-5-O-(5-amino-5,6-dideoxy-a-L-talofuranosyl)- paromamine 美国2016-11-03Treatment of Rett syndrome官方记录
- cannabidivarin美国2016-11-30Treatment 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2017-06-22Treatment of Rett Syndrome官方记录
- recombinant serotype 9 adeno-associated virus encoding a codon-optimiz美国2020-10-07Treatment 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2022-04-19Treatment of Rett Syndrome官方记录
- Ketamine美国2023-02-01Treatment of Rett Syndrome官方记录
- Recombinant serotype 9 adeno-associated virus (AAV) encoding an intron美国2023-02-27Treatment of Rett syndrome官方记录
- 1-O-octadecyl-2-arachidonoyl-sn-glycerol-3-phosphoethanolamine美国2023-03-29Treatment of Rett syndrome官方记录
- Self-complementary Adeno-Associated Virus 9 containing human methyl-Cp美国2024-03-11Treatment of Rett syndrome官方记录
- vorinostat美国2024-05-24treatment of Rett syndrome官方记录
- CBDA dominant extract of Cannabis sativa / Low (<0.3% w/w) delta-9-tet美国2024-11-25treatment of Rett syndrome官方记录
- (S)-1-(L-Leucyl-L-arginyl)-2-methylpyrrolidine-2-carboxamide美国2026-07-26treatment 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NCT06739434GCB-002 in Treatment of Patients With Rett Syndrome中国研究中心 1 个：Shanghai
其他状态的试验（2 项）
- 已完成NCT06199700Esketamine for the Treatment of Rett Syndrome中国研究中心 1 个：Xiamen
- 进行中·不再招募NCT06856759Single-Dose AAV-MECP2 Safety/Tolerability and Efficacy in Rett Syndrome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NCT06840496To Investigate the Efficacy of Treatment With Oral NA-921 (Bionetide) Versus Placebo in Females With Rett Syndrome澳大利亚、美国
- 尚未开始招募NCT04041713A Pilot Study of an Antioxidant Cocktail vs. Placebo in the Treatment of Children and Adolescents With Rett Syndrome加拿大
- 尚未开始招募NCT07730112Adapting a Psychosocial Support Intervention for the Rett Syndrome Community美国
- 招募中NCT07503444A Phase 3 Study of Fenfluramine Hydrochloride in Rett Syndrome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NCT07257978Efficacy and Safety of NTI164 in Children and Young Adults With Rett Syndrome澳大利亚
- 招募中NCT07480564Safety and Preliminary Efficacy of TSHA-102 Gene Therapy in Pediatric Females Aged >2 to <4 Years With Rett Syndrome美国
- 招募中NCT07150013Rett REVOLUTION Trial: An Exploratory Evaluation of the Safety and Efficacy of Vorinostat in Rett Syndrome哥伦比亚
- 招募中NCT07493096Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders美国
- 招募中NCT07569445Auditory EEG and Behavioral Assessments in Individuals With Rett Syndrome美国
- 招募中NCT07430046Repurposing Mirtazapine in Rett Syndrome意大利
- 招募中NCT06338267Validating Innovative Biosensors for Rett Autonomic Symptom Tracking美国
- 招募中NCT06705816Cognitive Function in Rett Syndrome During Trofinetide Treatment美国
- 招募中NCT06430385ATTUNE: 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)奥地利、法国、西班牙、美国
- 招募中NCT05932589Neurophysiologic Biomarkers in Rett Syndrome美国
- 招募中NCT05432349Rett Syndrome Registry美国
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）