Rett Syndrome Real World Data Observational Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 3,000
- 试验地点
- 25
- 主要终点
- Natural History
研究概览
简要总结
The Rett Syndrome Registry is a longitudinal observational study of individuals with MECP2 mutations and a diagnosis of Rett syndrome. Designed together with the IRSF Rett Syndrome Center of Excellence Network medical directors, this study collects data on the signs and symptoms of Rett syndrome as reported by the Rett syndrome experts and by the caregivers of individuals with Rett syndrome. This study will be used to develop consensus based guidelines for the care of your loved ones with Rett syndrome and to facilitate the development of better clinical trials and other aspects of the drug development path for Rett syndrome.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or female with a pathologic loss of function alteration of MECP2
排除标准
- •Male or female with a gain of function alteration of MECP2, including those with MEPC2 duplication or triplication
结局指标
主要结局
Natural History
时间窗: 5 years
To longitudinally evaluate the natural history of patients with mutations on the MECP2 gene, estimating and defining their clinical spectrum (e.g. disease course and complications of disease).
次要结局
未报告次要终点