Genetic Analysis Between Charlotte's Web Responders Versus Non- Responders in a Dravet Population
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 19
- 试验地点
- 1
- 主要终点
- genetic differences between patients with Dravet Syndrome (SCN1A gene mutation) who appear to respond to high concentration cannabidiol (CBD) oil therapy versus those who do not.
研究概览
简要总结
There is tremendous curiosity about medical marijuana and the treatment of epilepsy. In a specific genetic epilepsy known as Dravet Syndrome, a mutation occurs affecting the SCN1A gene. A specific strain of marijuana known as Charlotte's Web, available in Colorado, may have activity in this catastrophic epilepsy syndrome. Anecdotal reports suggest both success and lack of response with this therapy. Genetic analysis of the differences between Dravet responders and non-responders may prove useful for identifying patients likely to be helped by this therapy, as well as shed light on the putative mechanisms by which marijuana may exert any antiepileptic effect.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- — 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •age 1-50 with gene confirmed Dravet Syndrome
- •uncontrolled epilepsy, having failed at least 2 prior treatments (including appropriate Anti-epileptic drugs, ketogenic diet, vagus nerve stimulation Therapy)
- •Seizure frequency should be more than 2 visually countable motor seizures per week (tonic clonic, tonic, clonic, myoclonic, or astatic)
- •care providers able to identify convulsive seizures, drop attacks, or tonic seizures, or any combination of countable seizure types
- •self- seeking therapy with Charlotte's Web strain of medical marijuana with the assistance of a medical marijuana doctor, but are still naïve to therapy
- •care provider able to complete seizure count diary
- •able to obtain oral swab sample from subject with Dravet Syndrome
- •agree to forfeit any right to results of genetic analysis
排除标准
- •subjects having non-epileptic seizures that are not distinguishable from epileptic seizures by the care provider
- •prisoners
- •pregnant women
- •failure to forfeit right to results of genetic analysis
结局指标
主要结局
genetic differences between patients with Dravet Syndrome (SCN1A gene mutation) who appear to respond to high concentration cannabidiol (CBD) oil therapy versus those who do not.
时间窗: 1 day
Patients completing three months of therapy with a seizure reduction of \>50% will be designated a "Responder" and patients who discontinue therapy for any reason prior to 3 months or have a \<=50% seizure reduction will be designated "Non-Responder". Between-groups genetic analysis will be performed
次要结局
未报告次要终点