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Personalised and Precision Pharmacotherapy: Data-Driven Therapeutic Optimisation in Real-World Clinical Practice

A Special Issue of Journal of Clinical Medicine (ISSN 2077-0383) belonging to the section "Pharmacology".

Deadline for manuscript submissions: 20 April 2027 | Viewed by 567

Editors


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Guest Editor
BRIDGES—Biotechnology Research, Innovation and Design for Health Products, Polytechnic University of Guarda, 6300-559 Guarda, Portugal
Interests: pharmacotherapy; pharmacovigilance; pharmacology; drug interactions; epidemiology; public health; geriatric pharmacotherapy; clinical pharmacy
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Guest Editor
Department of Drug Statistics, Division of Health Data and Digitalisation, Norwegian Institute of Public Health, 0213 Oslo, Norway
Interests: multimorbidity; chronic diseases; public health; drug utilisation; pharmacovigilance; epidemiology; real-world evidence; AI in health
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We are pleased to invite submissions to this Special Issue of the Journal of Clinical Medicine entitled “Personalised and Precision Pharmacotherapy: Data-Driven Therapeutic Optimisation in Real-World Clinical Practice”.

Clinical decision-making increasingly takes place in settings marked by multimorbidity, polypharmacy and patient heterogeneity. In routine practice, standard dosing recommendations and guideline-based approaches often fall short of addressing the complexity of real patients. At the same time, growing access to clinical data, together with advances in pharmacokinetics, therapeutic drug monitoring, modelling approaches and clinical decision-support tools, offers new possibilities to individualise drug therapy.

This Special Issue aims to highlight clinically relevant, data-informed approaches that support therapeutic optimisation in real-world care. We welcome original research, reviews and implementation-oriented studies focusing on personalised pharmacotherapy, including dose individualisation, exposure–response relationships, drug–drug and drug–disease interactions, and precision strategies in patients with complex clinical profiles.

By bringing together methodological insight and clinical experience, this Special Issue seeks to advance practical and patient-centred approaches to pharmacotherapy in contemporary medicine.

Prof. Dr. Fátima Roque
Dr. Ignatios Ioakeim-Skoufa
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • precision pharmacotherapy
  • personalised medicine 
  • pharmacokinetics and pharmacodynamics 
  • therapeutic drug 
  • monitoring real-world evidence 
  • multimorbidity 
  • medication appropriateness 
  • model-informed precision dosing
  • does individualisation
  • clinical decision support

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Published Papers (1 paper)

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Research

20 pages, 2740 KB  
Article
Phenotype-Specific Pharmacogenetic Patterns of Methotrexate Neurotoxicity in Pediatric Acute Lymphoblastic Leukemia
by Javier Gómez-Román, Juan C. Restrepo, Luz M. González, Laura González-Rodríguez, Ángela Lacombe-Antoneli, Yolanda Gutiérrez-Martín, María Dolores de la Maya, Montserrat Mesegué, José Luis Dapena, Ana Carbone, Berta González Martínez, Francisco Lendínez Molinos, Antonio Molinés Honrubia, Miriam Abós García, Marina García Morín, Samuel Navarro Noguera, María Sagaseta de Ilurdoz, Itziar Astigarraga, Maria Baro Fernández, Jaime Verdú Amorós, Alexandra Regueiro, Manuel Ramírez Orellana, José Luis Fuster Soler, Soledad González Muñiz, Adela Cañete Nieto, Montserrat Torrent Español, Héctor González Méndez, Jose M. Vagace and Guillermo Gervasiniadd Show full author list remove Hide full author list
J. Clin. Med. 2026, 15(17), 6877; https://doi.org/10.3390/jcm15176877 - 5 Sep 2026
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Abstract
Background: Methotrexate-induced neurotoxicity (MTX-NTX) is a severe complication during childhood acute lymphoblastic leukemia (ALL) treatment, yet its underlying pharmacogenetic determinants remain incompletely understood. Methods: A multicenter retrospective nationwide case–control study was performed including 71 pediatric ALL patients (34 MTX-NTX cases and 37 controls). [...] Read more.
Background: Methotrexate-induced neurotoxicity (MTX-NTX) is a severe complication during childhood acute lymphoblastic leukemia (ALL) treatment, yet its underlying pharmacogenetic determinants remain incompletely understood. Methods: A multicenter retrospective nationwide case–control study was performed including 71 pediatric ALL patients (34 MTX-NTX cases and 37 controls). Targeted next-generation sequencing of 17 genes involved in MTX transport, intracellular metabolism and folate pathways was performed. Results: Transport-related genes accounted for 61.4% of all detected variants and showed the highest number of nominally significant variants. Pathway-level burden analysis demonstrated a significant enrichment of transporter-related variants in patients with MTX-NTX compared with controls (FDR-adjusted p = 0.004), whereas the analysis for folate/metabolism-related genes did not remain significant after multiple-testing (FDR-adjusted p = 0.096). Similar findings were observed in the stroke-like syndrome (SLS) subgroup (FDR-adjusted p = 0.014 and 0.108, respectively). Gene-level burden analysis identified ABCG2 and ABCC4 as the predominant contributors, harboring both 18.4% of significant variants in the overall MTX-NTX analysis and 20.6% and 17.6%, respectively in the SLS phenotype. Moreover, the distribution of significant variants was strongly correlated between the overall MTX-NTX and SLS analyses (Spearman’s ρ = 0.549, p = 0.022). Volcano plot analysis revealed ABCG2 as the gene showing the most prominent pattern of nominal associations, containing both the variants associated with a protective direction (e.g., c.1728-46G>A, p = 2.6 × 10−4) and variants associated with increased risk, including c.34G>A and c.203+36A>G (p = 0.002) and c.263+10A>G (p = 0.0097). Phenotype-specific analyses revealed distinct genetic signatures across neurological manifestations, with transporter genes predominating in focal neurological deficits. Conclusions: Our findings suggest that genetic variability in ABC transporter genes may contribute to susceptibility to MTX-NTX, whereas folate metabolism genes may represent complementary phenotype-modifying factors. These findings are exploratory and require validation in larger, independent cohorts and functional studies. Full article
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