Pharmacogenomic Testing in Pediatric Hematology/Oncology Patients

Обзор

Pharmacogenomic (PGx) testing involves analyzing variants of genes associated with drug metabolism, transport and medication targets. PGx testing uses an individual's genetic factors, such as single nucleotide polymorphisms (SNPs), to personalize therapy or dose a selection of medications. PGx testing has traditionally been used to test single genes, but there are now platforms allowing a panel of genes to be tested at once. To date there has not been a comprehensive screening of pediatric oncology patients to determine the prevalence of genetic variants that may affect anticancer therapy and supportive care medications. This study would allow us to summarize the frequency of clinically relevant gene-drug interactions and actionable genetic polymorphisms in pediatric oncology patients.

Подробное описание

This is a prospective, non-treatment, interventional single-arm study evaluating PGx results and modifications made to anticancer therapy and supportive medication administration based on PGx results in participants ≤ 26 years old with a newly diagnosed malignancy or bone marrow transplant candidate with non-malignant diagnosis who has not yet undergone myeloablative conditioning regimen.

Potential candidates will be presented with consent. Patients who agree will undergo the informed consent process, and participants who consent will be screened for eligibility. Those meeting eligibility criteria will be enrolled and undergo buccal swab collection. The buccal swab will be collected and sent for PGx testing at time of enrollment.

A copy of the test results in PDF (Portable Document Format) format and PGx consultation note will be uploaded to the participant's electronic medical record (EMR) and will be available to the participant via the MyAtrium Patient Portal and treating oncologist in the EMR. Results will also be reviewed by the pediatric oncology pharmacists. Apart from the availability and use of PGx test results to guide pharmacotherapy, participants will receive standard of care treatment as recommended by their primary oncologist.

During study participation, dose modifications made to anticancer therapy and supportive care medications based on PGx results will be collected every three months.

Participants are enrolled voluntarily after informed consent/assent and will not be reimbursed for study participation. Participants will receive PGx testing at no cost.

Вмешательства

• Другое Pharmacogenomic Testing
  Pharmacogenomic testing will be completed by the vendor. The vendor is certified under CLIA-88 and accredited by the College of American Pathologists as qualified to perform high-complexity testing. Genomic DNA extracted from the swab will be analyzed by PCR using Thermo Fisher TaqMan® and/or LGC Biosearch BHQ® probe-based methods to interrogate the variant locations listed in (See Appendix II). Twenty-seven genes are evaluated and reported.

Первичные конечные точки

• Gene-drug interaction [Срок оценки: 3, 6, 9, 12 months after enrollment]
• Genotype [Срок оценки: Baseline]

Вторичные конечные точки (2)

• Anticancer treatment modification based on PGx test result [Срок оценки: 3, 6, 9, 12 months after enrollment]
• Modification in supportive medication based on PGx test result [Срок оценки: 3, 6, 9, 12 months after enrollment]

Критерии участия

Критерии включения

• Written informed consent and HIPAA authorization for release of personal health information, and assent when applicable, from the participant, parent or legal guardian.
• Age ≤ 26 years at the time of consent.
• Newly diagnosed with a malignancy and planning to undergo anti-cancer therapy; or bone marrow transplant candidate with a non-malignant diagnosis who has not yet undergone myeloablative conditioning regimen.

Критерии исключения

• Anti-cancer therapy has already been initiated. Note: Enrollment after initiation of intrathecal chemotherapy will be allowed.
• Previously received bone marrow transplant or planning to receive as part of initial upfront therapy for a malignant condition.
• Prior history of tissue or organ transplant.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение

Не применимо

Модель

Одна группа

Маскирование

Открытое

Основная цель

Поддерживающая терапия

Центры проведения

США · 1 центр

• Levine Childrens Hospital Pediatric Cancer and Blood Disorders — Charlotte

Идентификаторы

NCT: NCT06744712 · IRB00104368 · LCI-PED-NDPO-PGx-001 · NCI-2025-00567

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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