更新于：2024-11-01

Myoclonic Epilepsy, Juvenile

青少年肌阵挛性癫痫

更新于：2024-11-01

基本信息

别名

Adolescent Myoclonic Epilepsy、EJM、EPILEPSY, MYOCLONIC JUVENILE

+ [52]

简介

A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)

关联

项与青少年肌阵挛性癫痫相关的药物

Levetiracetam

左乙拉西坦

靶点

SV2A

作用机制

SV2A调节剂

在研机构

Ratiopharm GmbH [+21]

原研机构

UCB SA

在研适应症

部分性癫痫持续状态 [+10]

非在研适应症

急性反复发作 [+28]

最高研发阶段批准上市

首次获批国家/地区

美国

首次获批日期1999-11-30

MGCND00EP1

靶点-

作用机制-

在研机构

Argent BioPharma Ltd.

原研机构

MGC Pharmaceuticals d.o.o

在研适应症

耐药性癫痫

非在研适应症

青少年肌阵挛性癫痫

最高研发阶段临床2期

首次获批国家/地区-

首次获批日期1800-01-20

项与青少年肌阵挛性癫痫相关的临床试验

NCT04406948 / Withdrawn临床2期

Randomized, Double Blind, Placebo Controlled, Parallel Design Phase II b Study of Safety and Efficacy of MGCND00EP1 as an Add on Treatment in Children and Adolescents With Resistant Epilepsies

EudraCT: 2018-003887-29
Objective:To evaluate the safety and efficacy of: MGCND00EP1 from MGC PHARMACEUTICALS d.o.o.
Study Design: Randomized, double blind, placebo controlled parallel grouped study Sample Size: 103 subjects Study Population: Children from 1 year to 18 years of age Comparator Product :Placebo solution, oral IMP Product : MGCND00EP1 (each ml of solution containing 100 mg of cannabidiol and 5 mg of (-)-trans-Δ9- tetrahydrocannabinol as active substance) from MGC PHARMACEUTICALS D.O.O.
According to dosing scheme up to 25 mg/kg BW per day or maximum daily dose 800 mg (whichever smaller) for 6 weeks titration and 6 weeks of treatment, oral administration

开始日期2024-05-30

申办/合作机构

MGC Pharmaceuticals d.o.o

CTRI/2024/04/065579 / Not yet recruiting临床2期IIT

A clinical study on Aurokid Plus tablet as adjuvant therapy in the management of pediatric Myoclonic Epilepsy - A proof of concept - NIL

开始日期2024-04-22

申办/合作机构-

CTRI/2024/02/062352 / Not yet recruiting临床4期IIT

Tele-school health led Epilepsy Smart Schools in India: An Implementation Initiative with Mixed Methods Assessment (Tele_ESSI). - Tele_ESSI

开始日期2024-02-10

申办/合作机构-

100 项与青少年肌阵挛性癫痫相关的临床结果

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100 项与青少年肌阵挛性癫痫相关的转化医学

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0 项与青少年肌阵挛性癫痫相关的专利（医药）

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1,405

项与青少年肌阵挛性癫痫相关的文献（医药）

2024-12-01·Epilepsy & Behavior

Depression and stigma among a sample of Egyptian adolescents with epilepsy and their impact on antiseizure medications adherence

Article

作者: El-Sawy, Shereen ; Kishk, Nirmeen ; Magdy, Rehab ; Mohamed Fouad, Amr ; Soliman, Nourhan A ; Soliman, Nourhan A.

BACKGROUNDThe lifetime prevalence of epilepsy varies between 3.5 and 10.7 per 1000 individuals in developed countries, and from 0.9 to 74.4 per 1000 individuals in Asia, sub-Saharan Africa, and Latin America. In adolescents, the prevalence of epilepsy is estimated to be 1.5 to 2%.PURPOSEThe purpose of this study was to examine the clinical characteristics of adolescents with epilepsy (AWE) and highlight the differences between childhood-onset epilepsy and adolescent-onset epilepsy. Additionally, the study aimed to assess the level of self-stigma and depression, as well as their impact on adherence to antiseizure medication (ASMs).METHODSThis cross-sectional study was conducted at the Epilepsy Clinic at Kasr Al-Ainy Hospitals. Patients underwent a thorough evaluation of their seizure history, as well as completed the Adherence to Refills and Medications Scale (ARMS), Kilifi Stigma Scale for Epilepsy (KSSE), and Patient Health Questionnaire-9 (PHQ-9) to assess depression.RESULTSA total of 136 AWE were included in the study, consisting of 82 males and 54 females with a median age of 15 and an interquartile range of 13-17. Most patients (54 %) had focal onset seizures, while the remaining 46 % had generalized onset seizures. Of the total sample, 87 (64 %) achieved seizure control for at least one year and are currently taking ASMs. However, only 60 % of the patients were found to be adherent to their ASMs. Fourteen patients (17.2 %) met the criteria for drug-resistant epilepsy. Interestingly, patients with adolescent-onset epilepsy were significantly more adherent to their ASMs compared to those with childhood-onset epilepsy (P=0.01). Additionally, the adherent group had significantly lower scores on KSSE and PHQ-9 compared to the non-adherent group (P=<0.0001 for each). Furthermore, there was a positive correlation between scores on the KSSE and PHQ-9 (P<0.001).CONCLUSIONDepression and self-stigma are significant barriers to adherence among adolescents with epilepsy. These findings highlight the need to involve psychiatrists and epileptologists in epilepsy transition programs.

2024-11-01·Seizure: European Journal of Epilepsy

Unraveling the shared genetics of common epilepsies and general cognitive ability

Article

作者: Kutrolli, Gleda ; Fominykh, Vera ; Smeland, Olav B. ; Dale, Anders M ; van der Meer, Dennis ; Taubøll, Erik ; Andreassen, Ole A ; Bahrami, Shahram ; Hagen, Espen ; Heuser, Kjell ; Shadrin, Alexey A ; Andreassen, Ole A. ; Parker, Nadine ; O'Connell, Kevin S. ; Rahman, Zillur ; Shadrin, Alexey A. ; Frei, Oleksandr ; Ueland, Torill ; Dale, Anders M. ; Steen, Nils Eiel ; Smeland, Olav B ; O'Connell, Kevin S ; Karadag, Naz ; Djurovic, Srdjan

PURPOSECognitive impairment is prevalent among individuals with epilepsy, and increasing evidence indicates that genetic factors can underlie this relationship. However, the extent to which epilepsy subtypes differ in their genetic relationship with cognitive function, and information about the specific genetic variants involved remain largely unknown.METHODSWe investigated the genetic relationship between epilepsies and general cognitive ability (COG) using complementary statistical tools, including linkage disequilibrium score (LDSC) regression, MiXeR and conjunctional false discovery rate (conjFDR). We analyzed genome-wide association study data on COG (n = 269,867) and common epilepsies (n = 27,559 cases, 42,436 controls), including the broad phenotypes 'all epilepsy', focal epilepsies and genetic generalized epilepsies (GGE), as well as specific subtypes. We functionally annotated the identified loci using several biological resources and validated the results in independent samples.RESULTSUsing MiXeR, COG (11.2k variants) was estimated to be almost four times more polygenic than 'all epilepsy', GGE, juvenile myoclonic epilepsy (JME), and childhood absence epilepsy (CAE) (2.5k - 2.9k variants). The other epilepsy phenotypes were insufficiently powered for MiXeR analysis. We quantified extensive genetic overlap between COG and epilepsy types, but with varying negative genetic correlations (-0.23 to -0.04). COG was estimated to share 2.9k variants with both GGE and 'all epilepsy', and 2.3k variants with both JME and CAE. Using conjFDR, we identified 66 distinct loci shared between COG and epilepsies, including novel associations for GGE (27), 'all epilepsy' (5), JME (5) and CAE (5). The implicated genes were significantly expressed in multiple brain regions. The results were validated in independent samples (COG: p = 3.62 × 10^-7; 'all epilepsy': p = 2.58 × 10^-3).CONCLUSIONOur study further dissects the substantial genetic basis shared between epilepsies and COG and identifies novel shared loci. An improved understanding of the genetic relationship between epilepsies and COG may lead to the development of novel comorbidity-targeted epilepsy treatments.

2024-11-01·Canadian Association of Radiologists Journal

Correlative Assessment of Machine Learning-Based Cobb Angle Measurements and Human-Based Measurements in Adolescent Idiopathic and Congenital Scoliosis

Article

作者: Hosseinpour, Shahob ; Chen, Chaojun ; Wu, Yujie ; Doria, Andrea S. ; Shroff, Manohar ; Stott, Samantha M. ; Namdar, Khashayar ; Amirabadi, Afsaneh ; Khalvati, Farzad

Purpose: Scoliosis is a complex spine deformity with direct functional and cosmetic impacts on the individual. The reference standard for assessing scoliosis severity is the Cobb angle which is measured on radiographs by human specialists, carrying interobserver variability and inaccuracy of measurements. These limitations may result in lack of timely referral for management at a time the scoliotic deformity progression can be saved from surgery. We aimed to create a machine learning (ML) model for automatic calculation of Cobb angles on 3-foot standing spine radiographs of children and adolescents with clinical suspicion of scoliosis across 2 clinical scenarios (idiopathic, group 1 and congenital scoliosis, group 2). Methods: We retrospectively measured Cobb angles of 130 patients who had a 3-foot spine radiograph for scoliosis within a 10-year period for either idiopathic or congenital anomaly scoliosis. Cobb angles were measured both manually by radiologists and by an ML pipeline (segmentation-based approach—Augmented U-Net model with non-square kernels). Results: Our Augmented U-Net architecture achieved a Symmetric Mean Absolute Percentage Error (SMAPE) of 11.82% amongst a combined idiopathic and congenital scoliosis cohort. When stratifying for idiopathic and congenital scoliosis individually a SMAPE of 13.02% and 11.90% were achieved, respectively. Conclusion: The ML model used in this study is promising at providing automated Cobb angle measurement in both idiopathic scoliosis and congenital scoliosis. Nevertheless, larger studies are needed in the future to confirm the results of this study prior to translation of this ML algorithm into clinical practice.

项与青少年肌阵挛性癫痫相关的新闻（医药）

2022-05-11

·医药观澜

4款药物拟纳入优先审评，来自人福药业、石家庄四药、康哲药业、汇宇制药

5月11日，中国国家药品监督管理局药品审评中心（CDE）官网公示，4款产品拟纳入优先审评，分别为人福药业申报的氯巴占片、石家庄四药申报的司替戊醇干混悬剂、康哲药业引进的甲氨蝶呤注射液（预充式）、汇宇制药申报的硫代硫酸钠注射液。本文将对这4款药品的基本信息予以介绍，仅供读者参阅（排名不分先后）。 1、人福药业：氯巴占片拟定适应症：Lennox-Gastaut综合征氯巴占为1,5-苯二氮草类药物，具有抗癫痫作用。在中国，氯巴占属于《精神药品品种目录》第二类精神药品，管控严格。目前，暂无氯巴占活性成分在中国获得批准上市销售，该产品已被CDE纳入《第二批鼓励研发申报儿童药品清单》。根据CDE公示，此次人福药业氯巴占片上市申请以“符合儿童生理特征的儿童用药品新品种、剂型和规格”为由拟纳入优先审评，拟用于2岁及以上Lennox-Gastaut综合征（LGS）患者癫痫发作的联合治疗。据文献报道，Lennox-Gastaut综合征是一种严重的儿童难治性癫痫综合征，约占小儿癫痫3%～5%。据人福药业早前新闻稿介绍，氯巴占是Lennox-Gastaut综合征的一种新型辅助治疗药物，与传统1,4-苯二氮䓬类药物相比，它具有疗效确切、安全性高、耐受性良好的特点。 2、石家庄四药：司替戊醇干混悬剂拟定适应症：Dravet综合征根据文献资料，司替戊醇的治疗机制主要是通过直接作用神经递质γ-氨基丁酸（GABA）受体，增强GABA能神经传导，同时抑制多种肝细胞色素P450酶，升高部分抗癫痫药的血药浓度，从而发挥抗癫痫作用。根据CDE公示，此次石家庄四药司替戊醇干混悬剂上市申请以“符合儿童生理特征的儿童用药品新品种、剂型和规格”为由拟纳入优先审评，拟与氯巴占和丙戊酸盐联合使用，用于婴儿严重肌阵挛性癫痫（Dravet综合征）患者癫痫发作时，氯巴占和丙戊酸盐无法充分控制的难治性全身强直阵挛发作的辅助治疗。 Dravet综合症又称为婴儿严重肌阵挛性癫痫（SMEI），是一种罕见的难治性癫痫性脑病。大部分Dravet综合症患者由于遗传因素在出生后的第一年就表现出严重且持续和发烧相关的癫痫症状，在随后数年内其它类型的癫痫症状会相继出现。已有多项研究显示，司替戊醇添加治疗Dravet综合征是一种安全有效的方式。 3、康哲药业：甲氨蝶呤注射液（预充式）拟定适应症：银屑病根据康哲药业早前发布的新闻稿，甲氨蝶呤注射液（预充式）是多种规格的低剂量小容量甲氨蝶呤注射剂，允许患者自行皮下给药。康哲药业于2020年9月与medac公司签订产品许可协议，从而获得了在大中华区开发和商业化该产品的独家权利。根据CDE公示，甲氨蝶呤注射液（预充式）已列入中国《国家短缺药品清单》，此次其上市申请拟纳入优先审评的适应症为：用于治疗对常规疗法不敏感的严重、顽固、致残性银屑病。公开资料显示，口服甲氨蝶呤由于胃肠道副作用较大，病人依从性较差。甲氨蝶呤注射液（预充式）专门设计用于治疗类风湿性关节炎和其他自身免疫性疾病，其在疗效、良好的安全耐受性和依从性之间取得较好的平衡。此前，该产品已在欧洲和美国获得批准，适应症涵盖银屑病、银屑病关节炎、克罗恩病等等多种自身免疫性疾病。 4、汇宇制药：硫代硫酸钠注射液拟定适应症：氰化物中毒等硫代硫酸钠是常见的硫代硫酸盐。根据CDE公示，此次汇宇制药硫代硫酸钠注射液以“临床急需的短缺药品、防治重大传染病和罕见病的创新药和改良型新药”为由拟纳入优先审评，针对适应症为：主要用于氰化物中毒，也可用于砷、汞、铅、铋、碘等中毒。根据公开资料，硫代硫酸钠为氰化物的解毒剂。在硫氰酸酶参与下，它能与体内游离的或与高铁血红蛋白结合的氰离子相结合，形成无毒的硫氰酸盐由尿排出而解氰化物中毒。此外，该产品还能与多种金属离子结合，形成无毒的硫化物由尿排出，同时还具有脱敏作用。参考资料：[1] 中国国家药监局药品审评中心（CDE）官网. Retrieved May 11，2022. From https://www.cde.org.cn/main/xxgk/listpage/9f9c74c73e0f8f56a8bfbc646055026d [2] 公司氯巴占片上市许可申请获受理. Retrieved Apr 12，2022. From https://mp.weixin.qq.com/s/j1UXUJG_2AxnKnnPqnd1Gw [3] 陈文杰（2019）. 司替戊醇辅助治疗儿童Dravet综合征的研究进展. 《国际儿科学杂志》.doi:10.3760/cma.j.issn.1673-4408.2019.07.003 [4] 蔡文仙, 舒志荣. Lennox-Gastaut综合征研究进展[J]. 中华实用儿科临床杂志, 2003, 018(012):1000-1001.[5]康哲药业（867.HK）创新药甲氨蝶呤注射液（预充式）中国注册上市许可申请已获受理. Retrieved Dec 9，2021, from https://mp.weixin.qq.com/s/0R1OOSFZ0eqbL0YNO4XhWw 内容来源于网络，如有侵权，请联系删除，谢谢。

优先审批创新药