West综合征
West syndrome
别名
智力障碍-高度节律失调综合征
相关基因 1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。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| CDKL5 | cyclin dependent kinase like 5 | ORPHA:505652 |
近两年的全球研究 368L2
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。
- 2026-06开放获取Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant
- 2026-06病例报告开放获取Perioperative Care of a Child With Miller-Dieker Syndrome
- 2026-06开放获取Hemispherotomy for Pediatric Post-Traumatic Epilepsy
- 2026-06综述开放获取Neonatal Epilepsy: Beyond Seizures in a Developing Brain—A Narrative Review
- 2026-06开放获取The Anticonvulsant Effect of Long-Term Valproate Might Be Attributable to Altered Expression of Selected Genes in Mice
- 2026-06Primary concomitant horizontal strabismus as a clinical biomarker of severity in West Syndrome
- 2026-05综述开放获取Markers of Antiseizure Treatment Efficacy in Children: A Review
- 2026-05综述开放获取State-Dependent Modulation of Neurotransmitter Systems in Epilepsy: A Mechanistic Framework for Seizure Dynamics and Biomarker Variability
- 2026-05开放获取A novel homozygous <i>ARFGEF2</i> splice-site variant causing periventricular nodular heterotopia with microcephaly
- 2026-05病例报告开放获取ARFGEF2-Related Periventricular Nodular Heterotopia: A Case Report and Literature Review
- 2026-05开放获取Cochlear Implantation Following Neonatal Meningitis: A Rare Case Report
- 2026-05Beyond "low tone". What do the General Movements Assessment and Motor Optimality Score tell us about infants with developmental central hypotonia? A scoping review
- 2026-05开放获取Measurement of executive functioning in pre-school aged children in India: a scoping review
- 2026-04开放获取Phenocopies of 22q11.2DS: revealing genetic diversity in clinically suspected 22q11.2 deletion syndrome
- 2026-04开放获取Spastic Quadriplegia Resulting From a Pathogenic Variant in the <i>SPAST</i> Gene: A First Report
- 2026-04开放获取Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic Encephalopathies
- 2026-04开放获取Association of <i>ABCB1</i> Genetic Variants with Epilepsy Susceptibility in Jordanian Cohort
- 2026-04开放获取The economic burden of KCNT1-related disorders in the United States: insights from caregiver-reported and EMR-derived data
- 2026-04Inter-rater reliability and clinical utility of the BASED score in infantile epileptic spasms syndrome
- 2026-04病例报告开放获取A novel XIAP variant in a patient with hydrops fetalis: HSCT and beyond?
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（2 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。
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NCT06528197Construction of Clinical Model of Primary Sjogren's Syndrome Combined Traditional Chinese and Western Medicine中国研究中心 1 个：Beijing
- 仅邀请入组NCT06519617Study on Optimization and Evaluation of Integrated Chinese and Western Medicine for pSS Glandular Damage中国研究中心 1 个：Beijing
其他状态的试验（6 项）
- 已完成NCT07327164Precision Medicine for Neurocutaneous Syndromes in Western China中国研究中心 1 个：Chengdu
- 状态未知NCT01973855Chinese and Western Medicine Treatment of Fever Associated With Bleeding Symptoms中国研究中心 1 个：XiAn
- 已完成NCT01715376Effects of Integrated Treatment by Traditional Chinese and Western Medicine in Reducing Cardiovascular Events中国研究中心 1 个：Changchun
- 状态未知NCT03264638A Clinical and Biological Research of Combined Chinese and Western Medicine in the Treatment of PCOS中国研究中心 1 个：Beijing
- 状态未知NCT03435406Investigation of the Prevalence of Hepatopulmonary Syndrome in Cirrhosis Patients Caused by Hepatitis B in Western China中国研究中心 1 个：Chongqing
- 已完成NCT03650452A Phase 2, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Evaluate the Efficacy, Safety, and Tolerability of TAK-935 (OV935) as an Adjunctive Therapy in Pediatric Participants With Developmental and/or Epileptic Encephalopathies中国研究中心 6 个：Beijing、Changsha、Shanghai、Shenzhen
中国境外的在招试验 15L2
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。
法国3美国3澳大利亚1巴西1Burkina Faso1Côte d’Ivoire1Togo1Cambodia1加拿大1中国台湾1泰国1
CT.gov 报告命中 15 项，此处取回并展示最近的 14 项。
- 尚未开始招募NCT07585643IBIS - Investigating Reliability of BIS and SEDLINE Monitoring in Children With Developmental and Epileptic Encephalopathies (DEE).澳大利亚、巴西
- 尚未开始招募NCT07528196Study of Xuanbai Shengmai Decoction in the Treatment of Acute Respiratory Distress Syndrome
- 尚未开始招募NCT07355413Frailty, Geriatric Syndromes and Care Pathways of Older Adults Living With HIV in West AfricaBurkina Faso、Côte d’Ivoire、Togo
- 招募中NCT07358910Risk Assessment of Community Spread of Multiple Endemic Infectious Diseases in a One Health PerspectiveCambodia
- 招募中NCT05126914Multicentre Real-life Follow-up Study of Rare Epileptic Syndromes in Children and Adolescents法国
- 招募中NCT07160075HIV Prevention With PrEP Among People on Opioid Replacement Therapy加拿大
- 招募中NCT06700811Ketogenic Diet for Prevention of Epileptic Spasms in Infantile Onset Genetic Epilepsies美国
- 招募中NCT06819670A Study to Prevent Infantile Spasms Relapse美国
- 尚未开始招募NCT06859619Serological Measurement of Montpellier Professionals' Contacts with Infectious Agents Responsible for Animal-borne Diseases法国
- 招募中NCT06266234Characterization by Automated System on Infantile Spasmes法国
- 尚未开始招募NCT05962203SHIP-AGE: Frailty, Renal Function, and Multi-component Primary Care in Rural Mecklenburg-Western Pomerania
- 招募中NCT04289467Treatment of Refractory Infantile Spasms With Fenfluramine美国
- 招募中NCT06881173The Effectiveness of Bu Zhong Yi Qi Tang in Patients with Myasthenia Gravis中国台湾
- 招募中NCT04302116Vigabatrin With High Dose Prednisolone Combination Therapy vs Vigabatrin Alone for Infantile Spasm泰国
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）