Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy

ABSTRACT

The advent of novel disease‐modifying therapeutics for spinal muscular atrophy (SMA) increased life expectancy with better motor function and potentially better quality of life. While the benefits of these therapies are well established, most trials were conducted only in high‐income and middle‐income countries, and there is a lack of global representation. Furthermore, although these medications are now approved in over 50 countries worldwide, they remain unavailable to many who need them, potentially widening the gap in clinical care. Moreover, with these therapies, the standard SMA phenotype is changing, and the percentage of adult patients in the SMA cohort is increasing rapidly, requiring adjustments and modifications to the traditional therapeutic approach to SMA. It is important to identify potential sources of health inequalities to address them. Clinical opportunities for access include expanding screening availability by employing novel, affordable technologies, improving continuity of care through patient registries, and ensuring transitions of care for long‐term monitoring of adult patients with the disease. New technologies also offer the possibility of expanding the scope of telehealth to ensure access and of using artificial intelligence for rapid screening and disease monitoring. Regulatory changes and drug policies to reduce medication costs are also critical. Additional research on SMA population disparities and clinical trials that recruit from diverse populations and across the globe will help bridge the gap. Ensuring equitable healthcare access to disease screening and lifesaving medications is not just a recommendation but a call to action that can promote health for all.