Angelman Syndrome Natural History Study
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 300
- 试验地点
- 11
- 主要终点
- Medical History
研究概览
简要总结
The goal of this study is to conduct a prospective, longitudinal natural history study of children and adults with Angelman Syndrome using investigator-observed and parent-reported outcome measures to obtain data that will be useful for future clinical trials.
详细描述
The overall goal is to increase our understanding of the long-term natural history of Angelman syndrome and obtain Angelman-specific norms for outcome measures that can be used in clinical trials, ultimately improving the care of individuals with Angelman syndrome.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Molecular diagnosis of Angelman syndrome
排除标准
- •Presence of another condition, unrelated to Angelman syndrome, that affects neurodevelopment
结局指标
主要结局
Medical History
时间窗: Through study completion, an average of 1 year
Includes various medical complications, including seizure history
Vineland Adaptive Behavior Scales, 3rd edition
时间窗: Through study completion, an average of 1 year
Developmental and Adaptive skills
Bayley Scales of Infant and Toddler Development, 4th edition
时间窗: Through study completion, an average of 1 year
Developmental skills
Observer-Reported Communication Ability (ORCA) Measure
时间窗: Through study completion, an average of 1 year
Communication skills
次要结局
未报告次要终点
研究者
Wen-Hann Tan
Attending Physician in Genetics
Boston Children's Hospital