NCT02650622 · University of Texas Southwestern Medical Center
Genetic and Metabolic Disease in Children
What this study is about
This is a forward-looking, non-randomly assigned, 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.
View original scientific description
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.
Interventions
PROCEDURE
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 measures
Perform metabolomic profiling and exome sequencing in children with presumed genetic and metabolic diseases
Time frame: 3-4 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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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.
Where
- Dallas, Texas
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jul 2, 2026 · Source of record for eligibility and locations