New research published in Developmental Medicine and Pediatric Neurology indicates that early identification and treatment of patients with spinal muscular atrophy (SMA)-; a genetic disorder characterized by weakness and loss of muscle; can reduce the overall financial costs associated with the condition.
When analyzing data on 149 patients (93 untreated, 42 treated after symptoms occurred, and 14 treated after early diagnosis), the overall societal costs were lower in untreated patients (due to high drug costs in treated patients), but the costs were lower for treated patients identified by newborn screening than for treated patients identified as a result of symptom development.
This data is important because it comes from a real-life prospective collection. They clearly show that as long as the decision to reimburse treatments for SMA is made, newborn screening becomes a no-brainer; not only because it gives patients a much better future, but also because it saves a significant amount of money for the taxpayer. Using this real-world data, we are currently working on a model that estimates the lifetime costs of the different strategies.”
Laurent Servais, PhD, Senior Author, University of Liège, Belgium and University of Oxford, UK
Dangouloff, T., et al. (2022) Financial costs and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Developmental Medicine and Pediatric Neurology† doi.org/10.1111/dmcn.15286.