The Diagnostic Experience of Male Rett Syndrome
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 80
- 试验地点
- 1
- 主要终点
- Parenting experience
研究概览
简要总结
The Diagnostic Experience of Male Rett Syndrome collects information on the lived experiences of parents or caregivers to boys with Rett Syndrome. Key information examined includes the process of getting a male Rett syndrome diagnosis, your son's systems of care, and your priorities for his health needs.
Enrolled participants will complete an online survey with questions about having a son with Rett Syndrome. The Diagnostic Experience of Male Rett Syndrome study is available to parents or caregivers to boys (alive or passed) with Rett Syndrome. Compensation is not provided.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 0 Years 至 100 Years（Child, Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •English-speaking parents (over the age of 18) of male children (all ages, alive or deceased) with confirmed genetic diagnosis of male RTT
排除标准
- •parents of male MECP2 duplication syndrome
结局指标
主要结局
Parenting experience
时间窗: retrospective from birth
Remote survey the asks parents to rate with a rating scale their parenting experience
Diagnostic experiences
时间窗: retrospective from birth
Qualitative interview
QI-disability
时间窗: retrospective over prior month
"QI-Disability" is a published remote survey of symptom ratings that are combined into an aggregate score of quality of life
Information regarding child's death, if applicable
时间窗: retrospective from birth
Questionnaire that asks parents about the details of their child's death, if applicable
Attainment of developmental milestones and any regressions
时间窗: retrospective from birth
Remote survey of developmental milestones, reported in months
Parent priorities for care and counseling
时间窗: retrospective from birth
Remote survey the asks parents to prioritize with a rating scale their priorities for patient care
次要结局
- Family demographics(retrospective, over last 12 months)
- Systems of supports(retrospective, over last 12 months)
- Healthcare preferences(retrospective, over last 12 months)
研究者
Tim Benke, MD
Professor
Children's Hospital Colorado