The primary objective of this study was to compare the availability and implementation of disease-modifying treatment for spinal muscular atrophy (SMA) from different regions of the world.

SMA is a neurodegenerative disorder manifesting with progressive muscle weakness and atrophy. Nusinersen, risdiplam, and onasemnogene abeparvovec-xioi (OA) improve survival, motor strength, endurance, and ability to thrive, and have been recently approved by major regulatory agencies. While these therapies have revolutionized the world of SMA, they pose a high economic burden, and access is limited in some countries.

We surveyed healthcare providers from around the world regarding their experiences caring for patients with SMA. The primary outcomes were providers’ survey responses on newborn screening, drug availability/access, barriers to treatment, and related questions.

Twenty-four providers from 21 countries with an average of 26 years of experience in treating patients with SMA responded to the survey. Nusinersen was available in 19 of these countries, while risdiplam and OA were available in 15 countries. Genetic testing was usually available, but newborn screening was only available in 8 of the surveyed countries, with access limited by region in 5 countries. The provider-reported treatment cost also varied widely between nations, even within the Eurozone. Identified barriers to treatment included cost of medications and diagnostic testing (58% of respondents), difficulties in obtaining insurance authorization/reimbursement (33%), timely diagnosis (21%), lack of medication coverage by insurance (17%), lack of multidisciplinary teams (13%), limited infusion sites, and lack of follow-up care.

This study highlights the global inequality in managing patients with SMA. The spread of newborn screening is an essential first step in improving access to lifesaving treatment modalities. With the advancement of neurotherapeutics, an increasing number of rare genetic diseases will soon be treatable, and novel approaches will be needed to address the global inequality in access to care.