Investigating the role of pharmacogenomics in personalizing medication therapy for children: a pilot study

Authors

  • Prerana Sahu
  • Ritesh Patel

Keywords:

High dose Methotrexate, serum methotrexate level, Acute Lymphoblastic Leukaemia

Abstract

An antimetabolite that is frequently given for the treatment of both adult and pediatric malignancies is methotrexate (MTX). Because of MTX-related toxicity and pharmacokinetic unpredictability, HDMTX treatment is challenging. Methotrexate disrupts the metabolism of folate by blocking the methylenetetrahydrofolate enzyme (MTHFR). MTHFR polymorphism may affect how well a patient tolerates MTX. Therefore, the study intends to connect the clinical outcome of pediatric ALL patients receiving HDMTX infusions with the serum methotrexate level and MTHFR polymorphism. Between February 2023 and May 2024, a prospective study was conducted at CMC Hospital in Vellore. Acute Lymphoblastic Leukemia (ALL) relapses in children who were younger than 18 years old at enrollment and who are on high doses. Serum methotrexate levels 48 hours following the initiation of HDMTX infusion may be associated with severe methotrexate toxicity. While most patients with the A1298 C homozygous mutant (CC) exhibited increased liver enzymes, we observed that patients with the C667 T variation (CT) had delayed methotrexate elimination. MTHFR genotyping and serum methotrexate drug level prediction are crucial for preventing toxicities in individuals receiving high doses of methotrexate infusion.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

References

LaRochelle JM, Smith KP, Benavides S, Bobo K, Chung AM, Farrington E, Kennedy A, Knoppert D, Lee B, Manasco KB, Pettit R. Evidence demonstrating the pharmacist's direct impact on clinical outcomes in pediatric patients: An opinion of the pediatrics practice and research network of the American College of Clinical Pharmacy. Journal of the American College of Clinical Pharmacy. 2020 Jun;3(4):786-92.

Debbarma K, Praveen K. LIS education in India with the emerging trends in libraries: Opportunities and challenges. Indian Journal of Information Sources and Services. 2019;9(Supplement 1):41–43.

Gradwohl C, Engstler G, Anditsch M, Pichler H, Stemer G. The Impact of Clinical Pharmacy Services in a Tertiary Care Center Specialized in Pediatric Hemato-Oncology. Children. 2022 Mar 31;9(4):479.

King PK, Burkhardt C, Rafferty A, Wooster J, Walkerly A, Thurber K, Took R, Masterson J, St. Peter WL, Furuno JP, Williams E. Quality measures of clinical pharmacy services during transitions of care. Journal of the American College of Clinical Pharmacy. 2021 Jul;4(7):883-907.

Contreras LM, Bernardos CJ, Soto I. RAMS: A Protocol Extension to PMIPv6 for Improving Handover Performance of Multicast Traffic. J. Wirel. Mob. Networks Ubiquitous Comput. Dependable Appl.. 2011 Jun;2(2):67-82.

Sinha S, Narayanan RS. Novel Hybrid Lexicon Ensemble Learning Model for Sentiment Classification of Consumer Reviews. Journal of Internet Services and Information Security. 2023;13(3):16-30.

Renaudin P, Baumstarck K, Daumas A, Esteve MA, Gayet S, Auquier P, Tsimaratos M, Villani P, Honore S. Impact of a pharmacist-led medication review on hospital readmission in a pediatric and elderly population: study protocol for a randomized open-label controlled trial. Trials. 2017 Dec;18:1-8.

dos Santos Alcântara T, Carvalho GA, Sanchez JM, Ramos SF, Cunha LC, de Castro Araújo-Neto F, Valença-Feitosa F, Silvestre CC, de Lyra Junior DP. Quality indicators of hospitalized children influenced by clinical pharmacist services: a systematic review. Research in Social and Administrative Pharmacy. 2023 Oct 1;19(10):1315-30.

Aniemeke E, Crowther B, Younts S, Hughes D, Franco-Martinez C. Clinical pharmacy discharge counseling service and the impact on readmission rates in high-risk patients. Hospital pharmacy. 2017 May;52(5):348-52.

Hasan MS. The Application of Next-generation Sequencing in Pharmacogenomics Research. Clinical Journal for Medicine, Health and Pharmacy. 2024 Mar 29;2(1):9-18.

Ravn-Nielsen LV, Duckert ML, Lund ML, Henriksen JP, Nielsen ML, Eriksen CS, Buck TC, Pottegård A, Hansen MR, Hallas J. Effect of an in-hospital multifaceted clinical pharmacist intervention on the risk of readmission: a randomized clinical trial. JAMA internal medicine. 2018 Mar 1;178(3):375-82.

Sohrabbeig A, Arjomandnya AA. Investigation of relationship between perceived social support with scales of mental Wellbeing, in mothers having exceptional and normal children. International Academic Journal of Social Sciences. 2014;1(2):51-64.

Rani KP, Arshad M, Sangeetha A. Pothole Detection Using YOLO (You Only Look Once) Algorithm. In2022 International Conference on Advancements in Smart, Secure and Intelligent Computing (ASSIC) 2022 Nov 19 (pp. 1-6). IEEE.

Geng Y. Comparative Study on Physical Education Learning Quality of Junior High School Students based on Biosensor Network. Natural and Engineering Sciences. 2024 Sep 1;9(2):125-44.

Renaudin P, Boyer L, Esteve MA, Bertault‐Peres P, Auquier P, Honore S. Do pharmacist‐led medication reviews in hospitals help reduce hospital readmissions? A systematic review and meta‐analysis. British journal of clinical pharmacology. 2016 Dec;82(6):1660-73.

Donkor K, Zhao Z. The Impact of Digital Transformation on Business Models: A Study of Industry Disruption. Global Perspectives in Management. 2024;2(3):1-12.

Downloads

Published

2025-01-28

How to Cite

1.
Sahu P, Patel R. Investigating the role of pharmacogenomics in personalizing medication therapy for children: a pilot study. J Neonatal Surg [Internet]. 2025Jan.28 [cited 2025Feb.14];14(1S):144-50. Available from: https://jneonatalsurg.com/index.php/jns/article/view/1506