Metabolic Diseases Clinical Trial
Official title:
Genetic Regulators of Metabolism and Development in Children
NCT number | NCT02650622 |
Other study ID # | STU 112014-001 |
Secondary ID | |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | June 2015 |
Est. completion date | May 2025 |
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.
Status | Recruiting |
Enrollment | 1550 |
Est. completion date | May 2025 |
Est. primary completion date | May 2025 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 1 Day and older |
Eligibility | 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. |
Country | Name | City | State |
---|---|---|---|
United States | Children's Medical Center at Dallas | Dallas | Texas |
Lead Sponsor | Collaborator |
---|---|
University of Texas Southwestern Medical Center |
United States,
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 No — View Citation
Scriver CR, Neal JL, Saginur R, Clow A. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital. Can Med Assoc J. 1973 May 5;108(9):1111-5. — View Citation
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Other | Establish a specimen repository of healthy and diseased children | Blood samples and derived plasma and DNA samples, and patient fibroblast cell lines will be de-identified and stored in research laboratory. | 3 years | |
Primary | Perform metabolomic profiling and exome sequencing in children with presumed genetic and metabolic diseases | 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. | 3-4 years | |
Secondary | Perform metabolomic profiling in healthy children | The Levels of the metabolites will be measured by by mass-spectrometry technique in the plasma samples from enrolled healthy children. | 3-4 years |
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