Refractory Juvenile Myoclonic Epilepsy Cohort (ReJuMEC)

难治性青少年肌阵挛癫痫队列 (ReJuMEC)

• 批准号: G0800637/1
• 负责人: Anthony Marson
• 金额: $ 51.26万
• 依托单位: University of Liverpool
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2009
• 资助国家: 英国
• 起止时间: 2009 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=G0800637%2F1
• 关键词: Refractory; Juvenile; Myoclonic; Epilepsy; Cohort

Juvenile myoclonic epilepsy (JME) is a type of epilepsy which is usually diagnosed in the teenage years. There are an estimated 45,000 people with JME in the UK. People with JME often have three different types of seizures, brief muscle jerks usually of the upper limbs (myoclonus), convulsions, and short periods of impaired awareness (absence seizures). JME is a lifelong disorder which requires treatment with antiepileptic drugs but this is only effective in 70% of people. In the remainder, one or more of the seizure types persists despite drug treatment and this can lead to reduced educational attainment and employment opportunities, social stigma, an inability to drive, difficulty in forming relationships, and a dependence on others for daily care. It is estimated that one in every two hundred people with uncontrolled epilepsy will die as a result of their seizures. Treatment options for people with JME are limited and new drugs are not usually developed for this condition. Most are tested for other types of epilepsy and only become available for JME by chance. This reduces the likelihood that they will be effective. This project will bring together a group of epilepsy experts from across the UK in order to identify 200 people with drug resistant JME from out-patient clinics. The clinical records of these patients will be reviewed in detail and they will undergo further tests aimed at better understanding their disease. All information will be stored on a secure, centralised database at the University of Liverpool and will be used by UK researchers to investigate the causes and consequences of JME. As a result, patients will have the opportunity to take part in other research projects and to become involved in drug trials of new epilepsy medications. It is anticipated that the availability of a large group of people with well-defined JME will encourage the pharmaceutical industry to develop new treatments specifically for this type of epilepsy. The ultimate aim of this project is to raise awareness of JME, to improve understanding of its causes, and to find new treatments for this common and often debilitating epilepsy which increase the likelihood that people with JME can live a life free from seizures.

青少年肌阵挛性癫痫（JME）是一种通常在青少年时期诊断的癫痫。据估计，英国有45，000人患有JME。患有JME的人通常有三种不同类型的癫痫发作，通常是上肢的短暂肌肉抽搐（肌阵挛），抽搐和短期意识受损（失神发作）。JME是一种终身疾病，需要使用抗癫痫药物治疗，但这只对70%的人有效。在其他情况下，尽管进行了药物治疗，但一种或多种癫痫发作类型仍然存在，这可能导致教育程度和就业机会减少，社会耻辱，无法驾驶，难以建立关系，以及依赖他人进行日常护理。据估计，每200名癫痫患者中就有一人会因癫痫发作而死亡。JME患者的治疗选择有限，通常不会为这种情况开发新药。大多数被测试为其他类型的癫痫，只有机会成为JME可用。这就降低了它们有效的可能性。该项目将汇集来自英国各地的一组癫痫专家，以确定200名来自门诊诊所的耐药JME患者。这些患者的临床记录将被详细审查，他们将接受进一步的测试，旨在更好地了解他们的疾病。所有信息将存储在利物浦大学的一个安全的集中数据库中，并将由英国研究人员用于调查JME的原因和后果。因此，患者将有机会参加其他研究项目，并参与新的癫痫药物的药物试验。预计一大群具有明确定义的JME的人的可用性将鼓励制药行业开发专门针对这种类型癫痫的新治疗方法。该项目的最终目的是提高人们对JME的认识，提高对其原因的理解，并为这种常见且往往使人衰弱的癫痫找到新的治疗方法，从而增加JME患者的生活不受癫痫发作影响的可能性。