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AI for Newborn Metabolic Screening

NCT07368504 · Status: NOT_YET_RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 200000

Last updated 2026-01-27

No results posted yet for this study

Summary

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

Conditions

  • Inherited Metabolic Disorders

Interventions

DIAGNOSTIC_TEST

Artificial intelligence-based interpretation system for newborn genetic metabolic disease screening

This intervention is a deep learning-based software algorithm designed specifically for the interpretation of tandem mass spectrometry (MS/MS) data from routine newborn screening in Chinese neonates. It integrates clinical covariates-including gestational age, birth weight, and blood collection time-to perform multiple-of-the-median (MOM) normalization and simultaneously evaluates 42 inherited metabolic disorders. Unlike existing AI tools developed for older-generation screening panels (e.g., those covering only 29 analytes), this system is trained and validated on over 300,000 real-world Chinese newborn samples, making it the first AI diagnostic tool tailored to China's current expanded newborn screening program.

Sponsors & Collaborators

  • The Children's Hospital of Zhejiang University School of Medicine

    lead OTHER

Study Design

Allocation
NA
Purpose
SCREENING
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
2 Days
Max Age
28 Days
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2027-01-01
Primary Completion
2028-06-30
Completion
2028-11-30

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07368504 on ClinicalTrials.gov