Shortening the Path to Rare Disease Diagnosis by Using Newborn Genetic Screening and Digital Technologies (SCREEN4CARE): Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 20,000
- 试验地点
- 14
- 主要终点
- Whole Genome Sequencing
研究概览
简要总结
The main objective of the genetic newborn screening part of the Screen4Care-project is to shorten the path to rare disease diagnosis and to facilitate early intervention. Therefore, genetic newborn screening for currently treatable rare diseases (TREAT-panel approach) will be offered to families expecting a baby. Whole genome sequencing (WGS) will be offered as additional diagnostic approach to newborns participating in Screen4Care TREAT-panel approach, if they develop symptoms suggestive of a genetic disease.
To evaluate to what extend genetic newborn screening has an impact on participating infants and their families, a follow-up with standardised questionnaires will be performed for all participating families.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 年龄范围
- — 至 2 Years（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •TREAT-panel:
- •Infants born in one of the participating hospitals and birth centres
- •Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel)
- •Whole genome sequencing:
- •Participation in the TREAT-panel study
- •Symptoms suggestive of a genetic disease within the first 2 years of life
- •Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel) and the whole genome sequencing
排除标准
- •Missing informed consent of parents/legal guardian
研究组 & 干预措施
newborn screening
All newborns participating in the study will receive a genetic newborn screening for predefined treatable diseases. Newborns participating in the TREAT-panel developing symptoms suggestive of a genetic disease during the first 2 years of life can receive whole genome sequencing.
干预措施: newborn genetic screening and whole genome sequencing (Diagnostic Test)
结局指标
主要结局
Whole Genome Sequencing
时间窗: 2 years
• Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing
TREAT-panel
时间窗: 1 year
• Percentage of eligible couples who will accept to participate to the genetic newborn screening
次要结局
- TREAT-panel(1 year)
- Whole Genome Sequencing(2 years)
研究者
Jan Kirschner
Prof. Dr.
University Hospital Freiburg