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.

青少年肌阵挛癫痫 (JME) 是一种通常在青少年时期诊断的癫痫类型。英国估计有 45,000 名 JME 患者。 JME 患者通常会出现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）、抽搐和短期意识障碍（失神发作）。 JME 是一种终生疾病，需要抗癫痫药物治疗，但这只对 70% 的人有效。在其余的人中，尽管进行了药物治疗，一种或多种癫痫类型仍然存在，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，每两百名癫痫失控的人中就有一人会因癫痫发作而死亡。 JME 患者的治疗选择有限，并且通常不会针对这种情况开发新药。大多数都经过了其他类型癫痫的测试，只是偶然才可用于 JME。这降低了它们有效的可能性。该项目将汇集来自英国各地的癫痫专家小组，以便从门诊诊所中识别出 200 名耐药 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，以更好地了解他们的疾病。所有信息将存储在利物浦大学的安全集中数据库中，英国研究人员将使用该数据库来调查 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癫痫药物的药物试验。预计大量具有明确 JME 的人群的出现将鼓励制药行业专门针对此类癫痫开发新的治疗方法。该项目的最终目标是提高对 JME 的认识，加深对其病因的了解，并为这种常见且常常使人衰弱的癫痫找到新的治疗方法，从而增加 JME 患者过上无癫痫发作的生活的可能性。