Analysis of genomic and metabolic data in newborns with genetic diseases
Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases
Sixth Affiliated Hospital, Sun Yat-sen University · NCT06183138
This study is trying to see if analyzing genetic and metabolic information from newborns can help doctors better diagnose genetic diseases.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40000 (estimated) |
| Ages | 1 Day to 28 Days |
| Sex | All |
| Sponsor | Sixth Affiliated Hospital, Sun Yat-sen University (other) |
| Locations | 1 site (Guangzhou, Guangdong) |
| Trial ID | NCT06183138 on ClinicalTrials.gov |
What this trial studies
This observational study collects and analyzes genomic sequencing and metabolomics data from approximately 40,000 newborns to construct a comprehensive database of neonatal genetic diseases. The research aims to utilize machine learning algorithms to develop predictive models for diagnosing common genetic diseases based on this data. By examining the correlation between genetic variations and metabolic profiles, the study seeks to enhance the accuracy of disease detection and expand the application of tandem mass spectrometry technology. The data collection spans from January 2019 to August 2022 across multiple centers in South China.
Who should consider this trial
Good fit: Ideal candidates for this study are newborns aged 1 to 28 days with a gestational age of 37 to 42 weeks.
Not a fit: Patients with unclear clinical information or data that cannot be analyzed will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate and timely diagnoses of genetic diseases in newborns, improving early intervention and treatment outcomes.
How similar studies have performed: Other studies utilizing genomic and metabolomic data for disease prediction have shown promise, indicating that this approach is both relevant and potentially impactful.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Age 1-28 days * gestational age 37-42 weeks Exclusion Criteria: * Neonatal data with unclear clinical basic information * Lack of traceability core information data * The data that the test results cannot be analyzed and interpreted
Where this trial is running
Guangzhou, Guangdong
- The Sixth Affiliated Hospital, Sun Yat-sen University — Guangzhou, Guangdong, China (RECRUITING)
Study contacts
- Study coordinator: Hu Hao
- Email: haohu@mail.sysu.edu.cn
- Phone: 86-020-38777850
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Hereditary Diseases, neonatal genetic diseases, Defect, Newborn