A Case of Spinal Muscular Atrophy Type 3a Showing Improvement in Neurofilament Light Chain of Cerebrospinal Fluid: Real-world Evidence

Abstract

A 38-year-old male was diagnosed with spinal muscular atrophy (SMA) type 3a, previously misdiagnosed as muscular dystrophy. He began treatment with nusinersen after getting approval from health insurance service. Cerebrospinal fluid (CSF) was collected when nusinersen was intrathecally injected. We measured the neurofilament light chain (NfL) level using a single molecular array as an efficacy biomarker. The CSF NfL level was markedly decreased after finishing the loading dosage. Our case implies that nusinersen is also effective in adults with SMA as a biomarker from real-world evidence.