The Patient Perspective

EP: 1.Advancements & Challenges in Muscular Dystrophy Treatment

EP: 2.Data on Duchenne Muscular Dystrophy Treatment From MDA 2025

EP: 3.Key Takeaways From DMD Treatment Data

EP: 4.Overview of Spinal Muscular Atrophy

EP: 5.Gaps in Care for Childhood SMA

EP: 6.The Impact of Intrathecal Onasemnogene Abeparvovec Therapy in SMA

EP: 7.Looking to the Future in MD Treatment

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EP: 8.The Patient Perspective

The Patient Perspective

Patient and family engagement remains crucial in shaping the future of muscular dystrophy research and treatment. Ongoing dialogue with patients and their families is essential to understand what they truly want from research efforts, as they are the ultimate beneficiaries of these advances. This communication centers around identifying clinically meaningful outcomes that matter most to patients and families. While survival remains the ultimate goal for everyone, researchers must also establish important surrogate outcomes that capture meaningful improvements in patients’ lives. These discussions become particularly important when presenting data to regulatory agencies like the FDA, where demonstrating clinical meaningfulness and patient impact is essential for approval.

The introduction of new therapies and technologies brings both unprecedented opportunities and novel risks that must be carefully communicated to patients. Some risks are directly related to the treatments themselves, while others are indirect consequences that may not be immediately apparent. The unpredictable nature of some adverse events means that comprehensive risk communication is vital for informed decision-making. Different patient populations have varying risk tolerances, with some preferring conservative approaches while others are willing to accept higher risks for potentially transformative outcomes. Some patients view these innovative treatments as necessary Hail Mary interventions for devastating diseases, while others may be more cautious about accepting unknown risks.

The high cost and innovative nature of gene therapies present additional challenges that require careful stewardship to ensure sustainability and accessibility. These life-altering treatments represent significant advances in the therapeutic landscape, but their expense creates barriers that must be addressed to prevent widening care gaps. Responsible stewardship involves balancing the need to provide access to these transformative treatments while ensuring long-term sustainability of health care systems. The patient advocacy community’s growing excitement about these therapies, particularly regarding expansion to include older patients, must be matched with thoughtful approaches to cost management and equitable access to ensure that these breakthrough treatments can benefit all patients who could benefit from them.