Italian Angelman Syndrome Registry Protocol
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 82
- 试验地点
- 1
- 主要终点
- Medical and behavioral problems
研究概览
简要总结
The Italian Angelman Registry is a national registry for patients with Angelman Syndrome. No experimental intervention is involved in participation. The data provided are stored in the registry according the EU General Data Protection Regulation (GDPR, enforced on 25 May 2018), unless participants wish to withdraw their child/ adult's information from the registry.
详细描述
Parents/caregivers of a child or an adult with Angelman Syndrome living in Italy are eligible to insert data in this registry. The individuals must have a diagnosis of Angelman Syndrome confirmed by genetic testing results. The registry has been launched in February 2018 in coincidence with the International Angelman Day and the recruitment will be open until February 2021.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Other
入排标准
- 年龄范围
- 1 Day 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Molecular diagnosis of Angelman syndrome
排除标准
- •Does not meet diagnostic criteria for Angelman Syndrome Other medical or genetic disorders (except autism)
结局指标
主要结局
Medical and behavioral problems
时间窗: 3 years
Medical and behavioral problems associated with Angelman syndrome and their prevalence.
次要结局
未报告次要终点