GENE THERAPY AS A SOLUTION FOR GENETIC DISORDERS IN PEDIATRIC POPULATIONS

Abstract

Objective: The study investigated the therapeutic potential of gene therapy interventions in the treatment of pediatric genetic disorders, specifically cystic fibrosis (CF) and Duchenne muscular dystrophy (DMD), in tertiary hospitals of the northwestern region of Pakistan. It aimed to evaluate safety, clinical outcomes, and biomarker change after experimental gene therapy delivery.

Methods: A prospective, controlled experimental study was conducted from January 2023 to December 2024. Children aged 2–16 years diagnosed with CF or DMD were enrolled and received gene therapy via targeted viral vector administration. The primary endpoints included change in pulmonary function (for CF), motor function scales (for DMD), and safety/adverse event profiling. Secondary endpoints included biomarkers of gene expression and quality of life assessments.

Results: At study completion, gene therapy demonstrated statistically significant improvements in forced expiratory volume (FEV1) in CF patients compared with baseline (p < 0.01), and positive trends in motor function scores among DMD participants (p < 0.05). Viral vector delivery was generally well tolerated. Adverse events were consistent with historical gene therapy profiles.

Conclusion: Experimental gene therapy in pediatric CF and DMD cases showed promising safety and efficacy profiles in a real‑world clinical setting. These findings supported further larger, multicenter phase III trials to confirm therapeutic benefit and long‑term outcomes.