Набор скоро начнётся NCT07368504

AI for Newborn Metabolic Screening

Без фазы С лечением Inherited Metabolic Disorders

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: В протоколе указаны: Artificial intelligence-based interpretation system for newborn genetic metabolic disease screening.
Кому может быть актуально: Состояния в реестре: Inherited Metabolic Disorders. Базовые параметры: 2 Days — 28 Days · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Китай
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Development and Clinical Validation of an Artificial Intelligence-Based Interpretation System for Newborn Screening of Inherited Metabolic Disorders

Обзор

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

Вмешательства

Диагностический тест 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., th

Первичные конечные точки

Sensitivity of the AI interpretation system for detecting inherited metabolic disorders [Срок оценки: Within 12 months after newborn screening]
Specificity of the AI interpretation system for detecting inherited metabolic disorders [Срок оценки: Within 12 months after newborn screening]

Критерии участия

Критерии включения

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