Biology of Juvenile Myoclonic Epilepsy
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,000
- 试验地点
- 15
- 主要终点
- Genomewide DNA association study
研究概览
简要总结
The investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe and North America. This study will draw on both existing and new samples from JME patients. These will be compared to anonymised data from samples for 2000 controls. The goal of this study is to find the genetic cause of JME. Finding the cause will help create better treatments for JME, as well as improve patient outcomes by allowing us to detect it earlier.
详细描述
Epilepsy is a common neurological disorder affecting 1% of the population. There are over 30 types of epilepsy, some common, some rare. Most epilepsies arise in childhood and have a genetic cause. Approximately 40% of patients have the common forms of Genetic Generalised Epilepsy (GGE), and the commonest GGE is "Juvenile Myoclonic Epilepsy" or JME.
The goal of this study is to find the genetic cause for JME. The investigators will do this by comparing the genetic code in JME patients with that in people who do not have epilepsy. This study will use clues from their electroencephalograph or brainwave test that is used to help diagnose epilepsy. Participants will provide a single blood sample, along with permission to collect clinical data about their diagnosis and a copy of their clinical EEG. There is no direct benefit or risk to the research participants but the results from this study may help other people with epilepsy or brain impairments in the future.
There is overwhelming evidence that JME is caused by changes in genetic code. These changes are likely to be found in more than just one gene and there may be more than one type of change. In order to find these changes, this study will look at a large number of people with JME and compare their genetic code with people who do not have epilepsy. Finding the causes of JME will lead to better understanding of its cause, new treatments, and tailoring of treatments according to a person's genetic make-up.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Other
入排标准
- 年龄范围
- 10 Years 至 40 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria
- •Age of myoclonus onset 10-25 years
- •Seizures comprising predominant or exclusive early morning myoclonus of upper extremities
- •EEG interictal generalized spikes and/or polyspike and waves with normal background
- •Current age 10-40 years
排除标准
- •Myoclonus only associated with carbamazepine or lamotrigine therapy
- •EEG showing predominant focal interictal epileptiform discharges or abnormal background
- •Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures
- •Global learning disability
- •Dysmorphic syndrome
- •Unable to provide informed consent
- •Regrettably, we are currently unable to accept self-referrals to the BIOJUME study.
结局指标
主要结局
Genomewide DNA association study
时间窗: Day 1
Association between SNP marker and phenotype is measured using genomewide DNA markers, which enables us to test support for molecular networks that act on seizure susceptibility
次要结局
- Quantitative EEG endophenotype(Day 1)