RECRUITING

Genetic and Metabolic Disease in Children

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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

Quick Facts

Study Start:2015-06
Study Completion:2025-05
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02650622

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Day
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. Age 18 years or older
  2. Willing and able to provide informed consent
  3. Able to understand and follow study procedures
  4. Stable medical condition
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Christine Quinn, MS,CGC
CONTACT
214-456-2067
christine.quinn@childrens.com

Principal Investigator

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

Study Locations (Sites)

Children's Medical Center at Dallas
Dallas, Texas, 75390
United States

Collaborators and Investigators

Sponsor: University of Texas Southwestern Medical Center

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2015-06
Study Completion Date2025-05

Study Record Updates

Study Start Date2015-06
Study Completion Date2025-05

Terms related to this study

Keywords Provided by Researchers

  • Metabolism
  • Genetics
  • Metabolomics
  • Genomics

Additional Relevant MeSH Terms

  • Genetic Diseases
  • Metabolic Diseases