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Genetic and Metabolic Disease in Children

NCT02650622 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1550

Last updated 2025-06-26

No results posted yet for this study

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.

Conditions

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.

Sponsors & Collaborators

  • University of Texas Southwestern Medical Center

    lead OTHER

Principal Investigators

  • Ralph J DeBerardinis, MD, PhD · UT Southwestern Medical Center, Children's Medical Center at Dallas

Eligibility

Min Age
1 Day
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-06-30
Primary Completion
2030-05-31
Completion
2030-05-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02650622 on ClinicalTrials.gov