Barriers in the access to expensive genetic therapies for spinal muscular atrophy

Although the inherited neuromuscular disease spinal muscular atrophy is considered a rare disease, it has been on the forefront of genetic therapies research, with three therapies receiving FDA approval since 2016. Spinal muscular atrophy is an autosomal recessive loss of function disease that results progressive degeneration of the motor neurons which leads to continued progressive weakness and in its most common severe form, death by age 2 without treatment. Initiation of treatment within the first few weeks of life is essential for maximal benefit and best outcomes. Unfortunately, approximately 45% of children with spinal muscular atrophy at Nationwide Children’s Hospital are unable to receive treatment in the ideal time frame. Barriers to equitable care may be patient based, system based or disease based. Our experience at NCH has shown the disease-based barriers are quite rare. The most common barriers are system based and appear to be focused around access to care (access to insurance, insurance approval and pharmacy processes). This study will answer: what percentage of patient experience delays at each site?; what system based factors contribute to these delays?; and which factors are experienced nationwide and which are state specific?