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 Center

Status: Completed

Conditions: Cancer

Treatments: Genetic: DPYD or UGT1A1 variants

Study type: Observational

Funder types: Other

Identifiers

NCT05583422

HUM00213709 (Other Identifier)

UMCC 2022.062

Details and patient eligibility

About

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.

Full description

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).

Enrollment: 16 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

16 participants in 2 patient groups

Cases

Description:

This arm will be compiled of prospectively recruited cases for confirmatory testing based on their suspected genotype per Michigan Genomics Initiative and patients who have been retrospectively identified as any patient who had clinical genotype testing and had a variant that was their clinician used to guide the chemotherapy treatment. Prospective patients will undergo confirmatory genetic testing by a CLIA lab and those results will be provided to the patients clinical team at that time.

Treatment:

Genetic: DPYD or UGT1A1 variants

Controls

Description:

This arm will be compiled of all retrospective patients where genetic information was not known prior to receiving treatment.