Genetic Markers as Predictors of Treatment Response in Children with Juvenile Arthritis

Recent research led by specialists at University College London and Great Ormond Street Hospital for Children has identified specific gene patterns that could help predict how children with juvenile idiopathic arthritis (JIA) will respond to standard treatment with methotrexate (MTX). This breakthrough aims to personalize treatment plans, improving effectiveness and reducing unnecessary side effects.

Juvenile idiopathic arthritis is a common childhood autoimmune disorder characterized by joint pain, swelling, and stiffness caused by the immune system attacking the joints. Despite the availability of multiple therapies, accurately predicting the most effective treatment for each child remains challenging.

In the study, scientists analyzed blood samples from 97 children diagnosed with JIA, assessing gene activity levels, particularly focusing on genes involved in the interferon pathway, which plays a vital role in immune regulation. They discovered that children exhibiting higher activity levels of interferon-related genes before treatment were more likely to experience positive outcomes with methotrexate. Conversely, those with lower activity in these genes tended to respond less favorably.

The findings, published in the Annals of the Rheumatic Diseases, were further validated in an additional group of 73 children, reinforcing the potential for these gene signatures to serve as predictive biomarkers.

The research team managed to narrow down their results to just five key genes that could reliably forecast a child's response to MTX, paving the way for a simple blood test to inform treatment decisions. Such an approach could allow healthcare providers to identify the most suitable therapy swiftly, avoiding trial-and-error methods, minimizing side effects, and improving long-term health outcomes.

Professor Lucy Wedderburn from UCL Great Ormond Street Institute emphasized the importance of these discoveries, stating that personalized treatment based on genetic markers could transform the management of JIA. This advancement signifies a promising step toward precision medicine in pediatric autoimmune diseases.

Source: https://medicalxpress.com/news/2025-06-genes-children-arthritis-treatment.html