Identifying Novel Variants in the DPYD Gene in Patients of Non-Western Descent

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Total Enrollment

600 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-03-01

Study Completion Date

2022-08-01

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

This is a observational, multicenter study to identify novel variants of the DPYD gene which are possible deleterious in patients of non-Western descent.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Observational Study to Characterize Biomarkers and Disease Progression in Participants With Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

NCT06014541

Methyl CpG Binding Protein 2 (MECP2) Duplication Syndrome

ACTIVE_NOT_RECRUITING

Feasibility Study of Preimplantation Genetic Diagnosis for Single-gene Disorders

NCT02502214

Preimplantation Diagnosis

UNKNOWN

Identification and Characterization of Novel Non-Coding Variants That Contribute to Genetic Disorders

NCT04399694

Genetic Disease Inborn Errors of Metabolism Glycogen Storage Disease +2 more

COMPLETED

Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.

NCT06706934

Intellectual Disability

NOT_YET_RECRUITING

Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder

NCT06776341

SMN Complex Proteins GEMIN5 Protein, Human Neurodevelopmental Disorders

RECRUITING

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Research has shown that DPYD-guided dose-individualization based on 4 DPYD variants (DPYD\*2A, c.1236G\>A, c.2846A\>T and c.1679T\>G) can significantly reduce severe fluoropyrimidine-related toxicity. However, these 4 variants are most likely not predictive for toxicity in patients of non-Western descent. In this study the DPYD gene of patients of non-Western descent will be sequenced to identify novel variants that could be associated with a reduced DPD enzyme activity and an increased risk of developing severe fluoropyrimdine-related toxicity. Additionally, the ability to predict if a DPYD variant is possibly deleterious by a recombinant model systen (DPYD-varifier) will be studied.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Neoplasms

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Non-Western patients

Patients of non-Western descent with an indication for treatment with fluoropyrimidine-based chemotherapy. A patient is classified as non-Western if a one (1) of the parents or more than two (\>2) of the grand parents are of non-Western descent.

Sequencing of DPYD gene

Intervention Type GENETIC

The DPYD gene of non-Western patients will be sequenced to identify DPYD variants that are possibly associated with an increased risk of developing severe fluoropyrimidine-related toxicity.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Sequencing of DPYD gene

The DPYD gene of non-Western patients will be sequenced to identify DPYD variants that are possibly associated with an increased risk of developing severe fluoropyrimidine-related toxicity.

Intervention Type GENETIC

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Pathologically confirmed malignancy for which treatment with a fluoropyrimidine is considered to be in the patient's best interest
* Patients need to be self-declared non-Western
* Age 18 years and older
* Able and willing to give written informed consent
* WHO performance status of 0, 1 or 2
* Life expectancy of at least 12 weeks
* Able and willing to undergo blood sampling for study related analysis
* Adequate baseline patient characteristics (complete blood count, hepatic function which involves serum bilirubin, ASAT, ALAT, and renal function)

Exclusion Criteria

* Prior treatment with fluoropyrimidines
* Patients with known substance abuse, psychotic disorders, and/or other diseases expected to interfere with study or the patient's safety

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No