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临床试验/DRKS00033501
DRKS00033501尚未招募不适用

Genetic Newborn Screening for Rare Diseases within the Screen4Care Project - Screen4Care

niversitätsklinikum Freiburg; Klinik für Neuropädiatrie und Muskelerkrankungen0 个研究点目标入组 20,000 人开始时间: 2024年7月23日最近更新:
适应症

试验速览

阶段
不适用
状态
尚未招募
发起方
入组人数
20,000

研究概览

简要总结

暂无简介。

研究设计

研究类型
Observational

入排标准

年龄范围
one 至 2 Years(—)
性别
All

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
  • 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

研究者

发起方
niversitätsklinikum Freiburg; Klinik für Neuropädiatrie und Muskelerkrankungen

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