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Genetic and Metabolic Disease in Children
Sponsor: University of Texas Southwestern Medical Center
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.
Official title: Genetic Regulators of Metabolism and Development in Children
Key Details
Gender
All
Age Range
1 Day - Any
Study Type
OBSERVATIONAL
Enrollment
1550
Start Date
2015-06
Completion Date
2030-05
Last Updated
2025-06-26
Healthy Volunteers
No
Conditions
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.
Locations (1)
Children's Medical Center at Dallas
Dallas, Texas, United States