Pharmacogenetic Determinants Of Treatment Response In Children

To investigate whether genetic polymorphisms in genes encoding proteins involved in the metabolism or effects of drugs or environmental agents influence the disposition or effects of these xenobiotic substrates. To investigate the nature of heritability and the genetic basis of pharmacogenetic traits by studying family members of individuals with specific genotypes.

Study Overview

• Status: Recruiting
• Conditions: All Malignancies; Children Being Treated for Catastrophic Illness

Detailed Description

Pharmacogenetics is that discipline devoted to elucidating the genetic determinants of drug response. Particularly in the area of drug metabolism, many genes exhibit genetic polymorphism; that is, a stable percentage of the population (which generally differs by ethnic group) is deficient in the functional expression of the enzyme involved, and the deficiency is typically inherited as an autosomal recessive trait. With currently known polymorphisms in drug metabolism, the percentage of homozygous deficient individuals ranges from 0.3% to as many as 90% of the population, depending on the enzyme and the ethnic group.

Our prior studies have revealed multigenic pharmacogenetic models that are significantly predictive of various drug response phenotypes (e.g., drug resistance, drug clearance, drug toxicity, disease response) in children with ALL. The large number of candidate loci and the relatively small number of patients illustrate the fact that larger sample sizes are required to definitively establish these polygenic models. The fact that there were significant race/genotype interactions, such that predictions differed in whites vs blacks, highlights the need for adequate numbers of patients within racial and ethnic groups to allow differential analysis of genotypic predictors after adjusting for confounding demographic factors in pharmacogenetic studies via stratified design and analyses.

• Study Type: Observational
• Enrollment (Estimated): 8800

Contacts and Locations

• Study Contact: Name: Jun J. Yang, Ph. D.; Phone Number: 888-226-4343; Email: referralinfo@stjude.org

Study Locations

• United States
  • Tennessee
    • Memphis, Tennessee, United States, 38105
      • Recruiting
      • St. Jude Children's Research Hospital
      • Principal Investigator: Jun J. Yang, Ph. D.
      • Principal Investigator: Kristine Crews, PharmD, MSCI
      • Contact: Jun J. Yang, Ph. D.; Phone Number: 888-226-4343; Email: referralinfo@stjude.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

All patients treated at St. Jude Children's Research Hospital are eligible to participate in this study.

Description

Inclusion Criteria:

• Any patients under evaluation/treatment at St. Jude Children's Research Hospital (SJCRH)
• Parents or family members of St. Jude patients
• Non patient volunteers
• All study subjects must provide informed consent for participation
• Assent/Consent of the patient (parent) must be provided prior to attempts made by investigators to enroll a family member of a SJCRH patient

Exclusion Criteria:

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
All Participants; All participants enrolled on this study will have blood drawn for genetic testing.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
To investigate whether genetic polymorphisms in genes encoding proteins involved in the metabolism or effects of drugs or environmental agents influence the disposition or effects of these xenobiotic substrates.	28 years

Collaborators and Investigators

• Sponsor: St. Jude Children's Research Hospital
• Collaborators: National Cancer Institute (NCI); National Institute of General Medical Sciences (NIGMS)
• Investigators: Principal Investigator: Jun J Yang, Ph. D., St. Jude Children's Research Hospital; Principal Investigator: Kristine Crews, PharmD, MSCI, St. Jude Children's Research Hospital

Publications and helpful links

Helpful Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

Study record dates

Study Major Dates

• Study Start (Actual): August 17, 1998
• Primary Completion (Estimated): December 1, 2033
• Study Completion (Estimated): March 1, 2034

Study Registration Dates

• First Submitted: August 6, 2008
• First Submitted That Met QC Criteria: August 7, 2008
• First Posted (Estimated): August 8, 2008

Study Record Updates

• Last Update Posted (Actual): April 29, 2026
• Last Update Submitted That Met QC Criteria: April 23, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Keywords: Metabolism; Pharmacogenetic testing
• Additional Relevant MeSH Terms: Pathologic Processes; Disease Attributes; Catastrophic Illness
• Other Study ID Numbers: PGEN5; R37CA036401 (U.S. NIH Grant/Contract); P50GM115279 (U.S. NIH Grant/Contract); R01CA036401 (U.S. NIH Grant/Contract); R01GM118578 (U.S. NIH Grant/Contract); R35GM141947 (U.S. NIH Grant/Contract); R01CA264837 (U.S. NIH Grant/Contract); NCI-2021-09904 (Registry Identifier: NCI Clinical Trial Registration Program)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No