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Genetic and Metabolic Disease in Children
Genetic Regulators of Metabolism and Development in Children
Who can join
1 Day · All sexes
Full eligibility 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.
About the study
This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge detailed phenotypic characterization of patients presenting to the Pediatric Genetics and Metabolism Division in the Department of Pediatrics/Children's Medical Center at Dallas and collaborating clinics with Next-Generation sequencing techniques to identify disease-producing mutations. The primary objective of the study is to identify novel pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the study is to establish normative ranges of a large number of metabolites from healthy newborns and older children.
What is being tested
- Skin Biopsy (procedure)
Sponsor: University of Texas Southwestern Medical Center · Participants: 1,550 · Started: 2015-06
Contact the study team
- Christine Quinn, MS,CGC · Phone: 214-456-2067
Official record on ClinicalTrials.gov — NCT02650622
Locations in the U.S.
| Texas | Children's Medical Center at Dallas, Dallas |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.