Evaluating a Pharmacogenetic Testing Panel in Patients Suspected to be at Increased Risk for Pharmacogenetics-related AEs While Receiving Fluoropyrimidine or Irinotecan Therapy

University of Michigan Rogel Cancer Center16 enrolled

Overview

This study will be evaluating patients suspected to carry DPYD or UGT1A1 variants based off of Michigan Genomics Initiative (MGI) results. Standard of care treatment will be initiated with either Fluoropyrimidine or Irinotecan therapy. Retrospective collection of treatment related AEs and SAEs, dose delays, dose reductions, and treatment discontinuations will be completed.

Trial was registered as interventional as patients could be enrolled prospectively or retrospectively. Based on data received 2/3/2025, all 16 enrolled cases ended up being identified retrospectively. As the study is now considered to be only retrospective, the record has been updated as not an applicable clinical trial (ACT).

Study Type

OBSERVATIONAL

Enrollment

Conditions

Cancer

Interventions

DPYD or UGT1A1 variantsGENETIC

any CLIA certified lab can be used for confirmatory testing after patients have been identified through Michigan Genomics Initiative (MGI)

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Age \> 18 years * Prospectively enrolled cases: A. Suspected to carry an actionable DPYD phenotype per MGI and initiating treatment with systemic FP OR suspected to carry an actionable UGT1A1 phenotype per MGI and initiating treatment with irinotecan for cancer B. The ability to understand and the willingness to sign a written informed consent. * Retrospective cases: A. Confirmed actionable DPYD phenotype before treatment with systemic FP OR confirmed actionable UGT1A1 phenotype before treatment with irinotecan B. Clinician initiated dose reduction of the fluoropyrimidine or irinotecan therapy based upon genotype result * Retrospective controls: A. Suspected actionable DPYD phenotype per MGI and treatment with systemic FP OR suspected actionable UGT1A1 phenotype per MGI and treatment with irinotecan Exclusion Criteria: * For prospective cases, prior treatment with systemic FP if suspected to carry an actionable DPYD phenotype * For prospective cases, prior treatment with irinotecan if suspected to carry an actionable UGT1A1 phenotype * For prospective cases, inability to understand consent or make health-related decisions * History of allogeneic bone marrow transplant prior to genotype testing * History of liver transplant

Locations (1)

University of Michigan Rogel Cancer Center

Ann Arbor, Michigan, United States

Outcomes

Primary Outcomes

Comparison of grade 3 or higher AEs and SAEs

Compare rates of grade 3 or higher AEs and SAEs to fluoropyrimidine or irinotecan treatment between subjects with confirmed DPYD or UGT1A1 variants before chemotherapy treatment to retrospective matched controls without confirmatory PGx testing