Terapia génica como tratamiento para la distrofia muscular de Duchenne

Abstract

Introduction: Duchenne muscular dystrophy (DMD) has a worldwide prevalence of 0.5 per 100,000 live births. In Peru, the prevalence is 0.49%. DMD is still considered a condition without definitive treatment. Objective: To describe the usefulness of gene therapy as a treatment for Duchenne muscular dystrophy. Methods: A literature review was conducted using the PubMed, Springer Link, and SciELO databases. The reviewed articles were in English and Spanish, with a maximum age of 5 years. All the necessary information about gene therapy in Duchenne muscular dystrophy was extracted. Results: Exon-skipping therapy is currently the only approved gene therapy as it has shown the restoration of the dystrophin reading frame with drugs like Eteplirsen, Golodirsen, Vitolarsen, and Casimersen. CRISPR/Cas9-mediated therapy —still in preclinical studies— is promising as it enables dystrophin expression through exon reframing, skipping, and double-cut deletion. Final considerations: Currently, exon-skipping therapy is the fastest evolving therapy, demonstrating benefits in restoring dystrophin expression and improving the patient's gait. However, it can only be used in patients with mutations in specific exons.