The frequency of genetic disease and congenital malformation among patients in a pediatric hospital.
C R Scriver, J L Neal, R Saginur...
https://pubmed.ncbi.nlm.nih.gov/4704890Actively Recruiting
Age: 1Day +
All Genders
ID02650622
Genetic Regulators of Metabolism and Development in Children
Led by University of Texas Southwestern Medical Center · Updated on 2025-06-26
1550
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to discover new disease-associated genes in children, focusing especially on metabolic disorders where understanding the molecular causes may lead to new treatments. It involves children with rare inherited (Mendelian) disorders and healthy children, combining detailed clinical information with advanced gene sequencing to identify disease-causing mutations. The study also seeks to establish normal ranges for many metabolites in healthy newborns and older children to aid future diagnosis and treatment. Participants are recruited into three groups: healthy newborns, healthy older children, and children with confirmed or suspected metabolic or genetic diseases. Blood samples are collected during routine care or state-mandated newborn screening for metabolomic analysis, and DNA samples are used for gene sequencing to detect mutations. In the diseased group, skin biopsies may be taken to study the effects of mutations on metabolic function. Family members' samples may also be collected to support genetic analysis. Throughout the study, detailed metabolic and genetic testing will be performed to understand the metabolic abnormalities and gene mutations in affected children. Researchers will analyze blood metabolite profiles and conduct gene sequencing, with some laboratory testing on skin cells from biopsies. The primary outcome is to identify novel disease-causing mutations within about 3 to 4 years. The study also monitors healthy children to define normal metabolite levels. Participants' usual medical care continues alongside study procedures.
CONDITIONS
Brief Title
Genetic and Metabolic Disease in Children
Who Can Participate
Age: 1Day +
All Genders
Eligibility Criteria
You may qualify if you...
- Newborns aged 1 to 2 days
- Newborns with gestational age between 37 and 42 weeks
- Newborns with stable clinical status admitted to normal newborn nursery
- Children aged 0 to 18 years
- Children of any age with confirmed or suspected metabolic or genetic diseases
- Children with episodic metabolic decompensation such as hypoglycemia, hyperammonemia, or metabolic acidosis
- Children with developmental regression
- Children with major congenital malformations
- Children with other unexplained symptoms of potential genetic origin
You will not qualify if you...
- Newborns with gestational age less than 37 weeks or greater than 42 weeks
- Newborns showing signs of metabolic dysfunction, distress, or genetic diseases such as hypoglycemia, hyperglycemia, sepsis/shock, hypoxemia, or major congenital malformations
- Newborns whose mothers had complicated pregnancies including gestational diabetes, hyperglycemia, hypertension, preeclampsia, or other major disorders
- Older children with confirmed metabolic or genetic diseases
- Older children with suspected metabolic or genetic diseases
- Older children with episodic metabolic decompensation such as hypoglycemia, hyperammonemia, or metabolic acidosis
- Older children with developmental regression
- Older children with major congenital malformations
- No exclusion criteria for diseased children cohort
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Up to 3 to 4 years
Participants provide blood and DNA samples for metabolomic analysis and genomic sequencing to identify metabolic abnormalities and gene mutations. Skin biopsy is performed on some children with agreement from parents or guardians for further laboratory tests on metabolic function.
1 to 2 visits depending on cohort and procedures
Long-term Monitoring
Duration - Up to 3 to 4 years
Participants, including healthy newborns and children with diseases, are observed over time to establish normative metabolite ranges and discover new disease-associated genes.
Periodic sample collections depending on cohort assignment
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
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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Published Research Related To This Trial
Exome sequencing identifies the cause of a mendelian disorder.
Sarah B Ng, Kati J Buckingham, Choli Lee...
https://pubmed.ncbi.nlm.nih.gov/19915526