Genetic and Metabolic Disease in Children

Launched by UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER · Jan 7, 2016

Keywords

ClinConnect Summary

This clinical trial is studying genetic and metabolic diseases in children to find new genes that may cause these conditions. The researchers aim to identify specific mutations (or changes in genes) that could lead to new treatments for rare genetic disorders. To do this, they will gather detailed information about the children’s health and use advanced DNA testing techniques to look for these mutations. They are also collecting data on healthy newborns and older children to better understand what normal levels of certain chemicals in the body (called metabolites) should look like.

If your child is between 1 day and 18 years old, they might be eligible to participate, especially if they are healthy or have a confirmed or suspected genetic or metabolic disease. Participants will provide samples and information about their health as part of the study. It’s important to note that some children with specific health issues or complications may not be able to join the study. Overall, this trial offers a chance to contribute to important research that may help improve treatments for genetic and metabolic diseases in the future.

Gender

ALL

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.