Genetisk Studie av Amyotrofisk Lateral Sklerose (ALS)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 1,200
- 试验地点
- 17
- 主要终点
- Gene frequency
研究概览
简要总结
The purpose of this study is to explore the genetic causes relevant for ALS development in Norway.
详细描述
After being informed about the study and potential risks, all patients giving written informed consent will be asked to complete a small questionnaire regarding family history and have a blood sample withdrawn. Blood samples, questionnaires, clinical information and signed consent is send to Department of Medical Genetics, Telemark Hospital Trust were the genetic analysis is performed successively throughout the recruitment period. Patients can choose to have their genetic results returned in a diagnostic setting.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 16 Years 至 100 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Probable or definite ALS
- •Eligible to consent
排除标准
- •- not competent to give consent
结局指标
主要结局
Gene frequency
时间窗: 2020-2030
Number of patients with disease causing mutations in high penetrant ALS genes
New ALS genes
时间窗: 2024-2030
Identify new ALS genes in the Norwegian ALS population
Genetic risk factors
时间窗: 2022-2030
Identify genetic risk factors for ALS in Norway.
次要结局
未报告次要终点