The following is a summary of “Life-Saving Treatments for Spinal Muscular Atrophy Global Access and Availability,” published in the December 2023 issue of Neurology by Armengol et al.
Once fatal, severe spinal muscular atrophy (SMA) can now be treated with life-saving therapies, but access remains limited due to high cost.
Researchers started a retrospective study to gauge the global disparity in SMA access and implementation of life-saving treatments.
They conducted a qualitative study, surveying healthcare providers from 21 countries about their experiences caring for patients with SMA. The primary outcome measures included provider survey responses on newborn screening, drug availability/access, barriers to treatment, and related questions.
The results showed that 24 providers from 21 countries, with an average of 26 years of experience, responded to the survey. Nusinersen emerged as the most accessible therapy for SMA. The survey revealed that although genetic testing is generally accessible, newborn screening remains unavailable in numerous countries. As reported by providers, treatment costs varied between nations, with economic burden identified as a significant barrier in treating SMA patients.
Investigators concluded that the survey exposes global SMA care disparity, urging newborn screening and innovative access as future gene therapies emerge.
Source: neurology.org/doi/10.1212/CPJ.0000000000200224
