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Observational Study of Genetic and Metabolic Diseases in Children

This study aims to discover new genes linked to genetic and metabolic diseases in children. Researchers will look at children with suspected genetic and metabolic conditions, as well as healthy newborns and older children. The main goal is to find new gene changes (mutations) that cause rare genetic disorders. For some children with a confirmed metabolic or genetic condition, a small skin biopsy (a procedure to remove a tiny piece of skin) may be performed to study skin cells and metabolic function. This research will help us understand these diseases better and potentially lead to new treatments. This is an observational study, meaning researchers will collect information without giving any specific treatments.

Study design
This is a prospective, non-randomized, non-blinded observational study planning to enroll about 1550 participants.
What's involved
For some children with a confirmed metabolic or genetic condition, a skin biopsy will be performed. Metabolomic profiling and exome sequencing will be performed, with primary endpoints measured at 3-4 years.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, metabolomic profiling and exome sequencing, will be measured at 3-4 years.

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NCT02650622

Genetic and Metabolic Disease in Children

Recruiting
Not specifiedAges 1+Observational
University of Texas Southwestern Medical Center
~1,550 participants
Updated 2026-07-02 on ClinicalTrials.gov
What's tested:Skin Biopsy

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Perform metabolomic profiling and exome sequencing in children with presumed genetic and metabolic diseases
Measured over 3-4 years

Conditions

Genetic Diseases
Metabolic Diseases

Explore related trials

Genetic DisorderMetabolic Disorder

Where it's being run

1 sites across 1 states
Texas1

Study leadership

  • Ralph J DeBerardinis, MD, PhD · PRINCIPAL_INVESTIGATOR · UT Southwestern Medical Center, Children's Medical Center at Dallas

Who to contact

Christine Quinn, MS,CGC
[email protected]
214-456-2067
Email the study team

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Eligibility criteria

Inclusion

Subjects aged 1-2 days
Subjects with gestational age 37-42 weeks
Subjects with stable clinical status (admitted to normal newborn nursery)
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

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.
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

What this trial measures

  • Perform metabolomic profiling and exome sequencing in children with presumed genetic and metabolic diseases3-4 years

    The Levels of the metabolites that can be detected in the plasma from the enrolled children will be measured by mass-spectrometry technique.The DNA samples will be extracted from the blood samples of diseased children and then subjected to exome sequencing to identify gene mutations.