Identifying genetic and metabolic diseases in children
Official title: Genetic Regulators of Metabolism and Development in Children
Run by University of Texas Southwestern Medical Center · NCT02650622 · Data updated 2026-11-12
This study is trying to find new genetic causes of rare diseases in children by looking closely at their genes and metabolism.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Day and up |
| Sex | All |
| Enrollment | 1550 (estimated) |
| Sponsor | University of Texas Southwestern Medical Center Academic / other |
| Locations | 1 site (Dallas, Texas) |
| Status | Recruiting |
| Started | June 2015 |
| Main results expected | May 2030 |
| Study ends | May 2030 |
| Registry record updated | July 2, 2026 |
| Trial ID | NCT02650622 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include newborns aged 1-2 days, older children aged 0-18 years, and children with confirmed or suspected metabolic or genetic diseases.
✕Probably not a fit
Patients with overt signs of metabolic dysfunction or genetic diseases, as well as those outside the specified age range, may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to discover new disease-associated genes in children by focusing on genetic and metabolic disorders. It involves detailed phenotypic characterization of patients at the Pediatric Genetics and Metabolism Division, combined with Next-Generation sequencing techniques to identify pathogenic mutations. The study also seeks to establish normative ranges for metabolites in healthy newborns and older children, optimizing methodologies for metabolomic analysis. The primary goal is to identify novel mutations in children with rare Mendelian disorders.
Why it matters
Potential benefit: If successful, this study could lead to the development of novel therapies for genetic and metabolic diseases in children.
How similar studies have gone: Other studies have shown success in identifying genetic bases for metabolic disorders, making this approach promising yet still exploring new avenues.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion criteria of Cohort 1- Newborn: * Subjects aged 1-2 days * Subjects with gestational age 37-42 weeks * Subjects with stable clinical status (admitted to normal newborn nursery) Inclusion criteria of Cohort 2 - Older children: • Subjects aged 0-18 years Inclusion criteria of Cohort 3 - Diseased children: Subjects (no age limit) with ANY phenotype as below: * Confirmed metabolic or genetic diseases * Suspected metabolic or genetic diseases * Episodic metabolic decompensation (e.g. hypoglycemia, hyperammonemia, metabolic acidosis) * Developmental regression * Major congenital malformation * Other unexplained symptoms of potential genetic origin Exclusion criteria of Cohort 1 - Newborn: * Subjects with gestational age \<37 weeks or \>42 weeks * Subjects with overt signs of metabolic dysfunction, distress or genetic diseases including hypoglycemia, hyperglycemia, sepsis/shock, hypoxemia, or major congenital malformation * Subjects with mothers whose pregnancies were complicated by gestational diabetes, gestational hyperglycemia, gestational hypertension, preeclampsia, or any other major disorders. Exclusion criteria of Cohort 2 - Older children: * Subjects with confirmed metabolic or genetic diseases * Subjects with suspected metabolic or genetic diseases * Subjects with episodic metabolic decompensation (e.g. hypoglycemia, hyperammonemia, metabolic acidosis) * Subjects with developmental regression * Subjects with major congenital malformation Exclusion criteria of Cohort 3 - Diseased children No.
Where it's running
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Children's Medical Center at Dallas
Dallas, Texas, United States Recruiting
Study contacts
- Principal investigator: Ralph J DeBerardinis, MD, PhD — UT Southwestern Medical Center, Children's Medical Center at Dallas
- Study coordinator: Christine Quinn, MS,CGC
- Email: christine.quinn@childrens.com
- Phone: 214-456-2067
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.