Development and Clinical Validation of an Artificial Intelligence-Based Interpretation System for Newborn Screening of Inherited Metabolic Disorders
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 200,000
- 试验地点
- 1
- 主要终点
- Sensitivity of the AI interpretation system for detecting inherited metabolic disorders
研究概览
简要总结
The goal of this clinical trial is to evaluate whether an artificial intelligence (AI)-based interpretation system can accurately diagnose inherited metabolic disorders in newborns undergoing routine screening. The main questions it aims to answer are:
What is the sensitivity and specificity of the AI system compared to standard manual interpretation? Does the AI system reduce variability in screening results? Researchers will compare the AI interpretation results with those from standard manual review by trained laboratory staff to assess diagnostic performance.
Participants will:
Have their routine newborn screening blood samples analyzed using both the AI system and standard manual interpretation Be followed according to national newborn screening guidelines if either method indicates a positive result
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
- 2 Days 至 28 Days（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Newborns who underwent routine newborn screening for inherited metabolic disorders at the Zhejiang Provincial Newborn Screening Center between May 2025 and December 2027
- •Blood samples collected between 2 and 28 days of age
- •Availability of complete newborn screening test data and essential clinical information
排除标准
- •Missing, incomplete, or poor-quality screening data
- •Duplicate samples from the same newborn
研究组 & 干预措施
AI and Manual Interpretation of Newborn Screening Data
干预措施: Artificial intelligence-based interpretation system for newborn genetic metabolic disease screening (Diagnostic Test)
结局指标
主要结局
Sensitivity of the AI interpretation system for detecting inherited metabolic disorders
时间窗: Within 12 months after newborn screening
Specificity of the AI interpretation system for detecting inherited metabolic disorders
时间窗: Within 12 months after newborn screening
次要结局
未报告次要终点
研究者
huzhenzhen
Principal Investigator
The Children's Hospital of Zhejiang University School of Medicine