Actively Recruiting

Age: 1Day +
All Genders
NCT02650622

Genetic and Metabolic Disease in Children

Led by University of Texas Southwestern Medical Center · Updated on 2025-06-26

1550

Participants Needed

1

Research Sites

778 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

Genetic and Metabolic Disease in Children

Who Can Participate

Age: 1Day +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Subjects aged 1-2 days (Newborn cohort)
  • Subjects with gestational age 37-42 weeks (Newborn cohort)
  • Subjects with stable clinical status admitted to normal newborn nursery (Newborn cohort)
  • Subjects aged 0-18 years (Older children cohort)
  • Subjects with any age having confirmed or suspected metabolic or genetic diseases
  • Subjects with episodic metabolic decompensation such as hypoglycemia, hyperammonemia, metabolic acidosis
  • Subjects with developmental regression
  • Subjects with major congenital malformation
  • Subjects with other unexplained symptoms of potential genetic origin
Not Eligible

You will not qualify if you...

  • Subjects with gestational age less than 37 weeks or greater than 42 weeks (Newborn cohort)
  • Subjects with overt signs of metabolic dysfunction, distress, or genetic diseases including hypoglycemia, hyperglycemia, sepsis/shock, hypoxemia, or major congenital malformation (Newborn cohort)
  • Subjects whose mothers had complicated pregnancies with gestational diabetes, hyperglycemia, hypertension, preeclampsia, or other major disorders (Newborn cohort)
  • Subjects aged 0-18 years with confirmed or suspected metabolic or genetic diseases
  • Subjects aged 0-18 years with episodic metabolic decompensation such as hypoglycemia, hyperammonemia, metabolic acidosis
  • Subjects aged 0-18 years with developmental regression
  • Subjects aged 0-18 years with major congenital malformation
  • No exclusion criteria for diseased children cohort

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Children's Medical Center at Dallas

Dallas, Texas, United States, 75390

Actively Recruiting

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Research Team

C

Christine Quinn, MS,CGC

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

3

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