Recruiting

Observational Study

Sponsor:

University of Texas Southwestern Medical Center

Code:

NCT02650622

Conditions

Genetic Diseases

Metabolic Diseases

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

Skin Biopsy

Study Details

Brief summary:

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

Genetic Diseases

Metabolic Diseases

Study ID

NCT02650622

Start date

Jun, 2015

Status verified date

Jun, 2026

Completion date

May, 2030

Anticipated

Primary completion date

May, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

1550 participants

Anticipated

Interventions and Outcome Measures

Arms

Cohort 1-Newborns aged 1-2 days

No intervention will be applied specifically for this cohort. Blood samples will be collected from this cohort by piggybacking the state-mandated newborn screening test.

Cohort 2-Children aged 0-18 years

No intervention will be applied specifically for this cohort. Blood samples will be collected from this cohort by piggybacking the blood draw of patient's standard of care.

Cohort 3-Diseased childrens and families

Blood samples will be collected from this cohort by piggybacking the blood draw of patient's standard of care. Skin biopsy will be performed on the proband children with the agreement from parents or guardians.

Interventions

Skin Biopsy

Skin biopsy will only be performed on the proband children in the cohort 3. A small piece of skin (less than 1/8'') will be removed using a local anesthetic cream and a punch, which will then be used for culture of skin cells and other laboratory tests on metabolic function.

Primary outcome measure

  • Perform metabolomic profiling and exome sequencing in children with presumed genetic and metabolic diseases [ Time Frame: 3-4 years ]

Central Contacts and Locations

Central contacts

Christine Quinn, MS,CGC

214-456-2067christine.quinn@childrens.com

Locations

Children's Medical Center at Dallas

Recruiting

Dallas, Texas, United States, 75390

Contacts

Donnice Michel

214-456-6148DONNICE.MICHEL@childrens.com

Principal Investigator:

Ralph J DeBerardinis, MD, PhD

More Information

Sponsor

University of Texas Southwestern Medical Center

Last update posted

Jul 2, 2026

Last verified

Jun, 2026

Keywords

  • Metabolism
  • Genetics
  • Metabolomics
  • Genomics

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by University of Texas Southwestern Medical Center on 2026-07-02.