Inherited Metabolic DisordersNCT07368504
AI for Newborn Metabolic Screening
A study testing Artificial intelligence-based interpretation system for newborn genetic metabolic disease screening in people with Inherited Metabolic Disorders, run by The Children's Hospital of Zhejiang University School of Medicine at 1 site in China.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 28 daysHealthy volunteers can take part
- Conditions the study is for
- Inherited Metabolic Disorders
- What is being tested?
- Artificial intelligence-based interpretation system for newborn genetic metabolic disease screening
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 200,000 participants
- Where
- 1 siteChina
- Study dates
- 1 Jan 2027to 30 Nov 2028
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 28 days
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- 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
Who cannot join
- Missing, incomplete, or poor-quality screening data
- Duplicate samples from the same newborn
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
China1 site
The Children's Hospital, Zhejiang University School of Medicine
Hangzhou, Zhejiang, 310000
Hu, PhD, +86-571-86670459, hzz22980825@zju.edu.cn
About this study
Official title: Development and Clinical Validation of an Artificial Intelligence-Based Interpretation System for Newborn Screening of Inherited Metabolic Disorders
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.
Read more
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
- Being tested
- Artificial intelligence-based interpretation system for newborn genetic metabolic disease screening
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Artificial intelligence-based interpretation system for newborn genetic metabolic disease screeningDiagnostic test
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.
| Study group | Role | What they receive |
|---|---|---|
| AI and Manual Interpretation of Newborn Screening Data | Other | Not described Receives: Diagnostic Test: Artificial intelligence-based interpretation system for newborn genetic metabolic disease screening |
What is being measured
The primary outcome is the main question the study is designed to answer.
Sensitivity of the AI interpretation system for detecting inherited metabolic disorders
Measured: Within 12 months after newborn screening
Specificity of the AI interpretation system for detecting inherited metabolic disorders
Measured: Within 12 months after newborn screening
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jan 2026
- Study start1 Jan 2027 (estimated)
- Primary completion30 Jun 2028 (estimated)
- Study completion30 Nov 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Metabolic DisordersStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 200,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The Children's Hospital of Zhejiang University School of Medicine
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, huzhenzhen, The Children's Hospital of Zhejiang University School of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07368504
- Sponsor's protocol ID
- 2025-IRB-0550-P-01
- Status last verified
- Jan 2026
- First submitted
- 16 Jan 2026
- Last updated
- 27 Jan 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Development and Clinical Validation of an Artificial Intelligence-Based Interpretation System for Newborn Screening of Inherited Metabolic Disorders
- ClinicalTrials.gov ID
- NCT07368504
- Acronym / sponsor ID
- 2025-IRB-0550-P-01
- Conditions
- Inherited Metabolic Disorders
- Study type
- Interventional
- Recruitment status
- Not yet recruiting
- Enrolment
- 200,000 participants (estimated)
- Lead sponsor
- The Children's Hospital of Zhejiang University School of MedicineUniversity, hospital or other
- Study start
- 1 Jan 2027 (estimated)
- Primary completion
- 30 Jun 2028 (estimated)
- Study completion
- 30 Nov 2028 (estimated)
- First posted
- 26 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
Study design
- Primary purpose
- Screening
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| AI and Manual Interpretation of Newborn Screening Data | Other | Diagnostic Test: Artificial intelligence-based interpretation system for newborn genetic metabolic disease screening |
Who may qualify
- Ages
- 2 to 28 days
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (2 listed)
- Missing, incomplete, or poor-quality screening data
- Duplicate samples from the same newborn
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Artificial intelligence-based interpretation system for newborn genetic metabolic disease screeningThis 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. | Diagnostic test | AI and Manual Interpretation of Newborn Screening Data |
Primary outcome
Sensitivity of the AI interpretation system for detecting inherited metabolic disorders
Time frame: Within 12 months after newborn screening
Specificity of the AI interpretation system for detecting inherited metabolic disorders
Time frame: Within 12 months after newborn screening
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jan 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Artificial intelligence-based interpretation system for newborn genetic metabolic disease screening in people with Inherited Metabolic Disorders, run by The Children's Hospital of Zhejiang University School of Medicine at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 27 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Hu, PhD (+86-571-86670459, hzz22980825@zju.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Sensitivity of the AI interpretation system for detecting inherited metabolic disorders (time frame: Within 12 months after newborn screening). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 27 Jan 2026.