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RECRUITING
NCT02650622

Genetic and Metabolic Disease in Children

Sponsor: University of Texas Southwestern Medical Center

View on ClinicalTrials.gov

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

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.

Locations (1)

Children's Medical Center at Dallas

Dallas, Texas, United States