Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy

Abstract

Gene transfer therapy represents a major advancement in the treatment of patients with Duchenne muscular dystrophy (DMD). As clinical use expands, there is an urgent need for standardized, evidence and practice-informed guidelines to ensure safe and equitable delivery of this and similar products. A group of clinicians and researchers, coordinated by the Muscular Dystrophy Association and Parent Project Muscular Dystrophy, developed these consensus guidelines to outline recommendations for patient selection, institutional readiness, monitoring, and adverse event management, particularly in the first three months after treatment. This document emphasizes the importance of experienced multidisciplinary teams, real-time safety surveillance, and transparent reporting to support patient safety and clinician decision-making after treatment. While the Food and Drug Administration has approved only one gene therapy product for the treatment of patients with DMD, these recommendations may potentially apply to other products in clinical development. Currently, significant knowledge gaps remain regarding long-term safety, durability, and optimal timing of dosing, particularly for patients with advanced disease. Researchers do not fully understand how combination therapies and genetic background may impact the response to gene therapy. To address these gaps, ongoing real-world data collection, cross-center collaboration, and flexible adaptation of clinical protocols are essential. While these guidelines are based primarily on clinical expertise rather than well-established evidence, the guideline provides a foundation to support administration of gene therapy for patients with DMD. As the field evolves, continued refinement will be essential to maximize benefit, reduce risk, and inform future standards of care.