Gene therapy for rare diseases marks a new era in precision medicine: Insights from clinical trials

Abstract

Gene therapy represents an important advance in the treatment of rare diseases, offering precise and transformative therapeutic strategies. As many rare diseases are associated with well-defined genetic variants, they represent ideal candidates for targeted genetic interventions. The substantial unmet medical need associated with rare diseases has driven growing interest in gene therapy, with more than 300 clinical trials reported to date. The aim of this study was to evaluate the current evidence on gene therapy for rare diseases by examining therapeutic strategies, target diseases, clinical progress, clinical outcomes, and emerging research trends. Several approved therapies, including those for hemophilia B, spinal muscular atrophy, metachromatic leukodystrophy, and Wiskott–Aldrich syndrome, have demonstrated the clinical potential of gene therapy. Clinical evidence suggests that gene-based therapies in the management of rare diseases can achieve sustained functional benefits, reduce disease-related complications, and lessen dependence on long-term replacement or supportive treatments. However, challenges in ethical considerations, regulatory requirements, manufacturing complexity, treatment costs, and limited patient access remain. Continued clinical evaluation is essential to further establish long-term safety and effectiveness. Advances in gene therapy technologies and clinical applications continue to expand therapeutic opportunities for rare diseases while supporting the broader development of precision medicine.