Pre–symptomatic diagnosis and treatment in spinal muscular atrophy

Abstract

In spinal muscular atrophy (SMA), presymptomatic administration of three disease–modifying drugs is covered by insurance, and children who receive presymptomatic treatment have grown and developed normally. Due to the severity of the disease, it is inevitable that newborn screening (NBS) will be performed. In Japan, the introduction of an NBS program for SMA has been considered, and a demonstration project has been launched under the initiative of the Agency for Children and Families. Positive cases are confirmed and treated. We believe that it is necessary to provide information and support to the parents of children who test positive for NBS, to establish a medical system that takes NBS into consideration, to establish a system that does not drop out of treatment, to accumulate evidence for determining treatment plans, and to establish a registry and long–term surveillance.