Identifying genetic and metabolic diseases in children
Genetic Regulators of Metabolism and Development in Children
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 |
|---|---|
| Enrollment | 1550 (estimated) |
| Ages | 1 Day and up |
| Sex | All |
| Sponsor | University of Texas Southwestern Medical Center Academic / other |
| Locations | 1 site (Dallas, Texas) |
| Trial ID | NCT02650622 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: Other studies have shown success in identifying genetic bases for metabolic disorders, making this approach promising yet still exploring new avenues.
Eligibility criteria
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 this trial is running
Dallas, Texas
- 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
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.