Successful Natalizumab Treatment of Two Female Individuals With Susac Syndrome.

Susac syndrome is a rare autoimmune disorder affecting the brain, retina, and inner ear, often causing encephalopathy, vision loss, and hearing problems. Two patients with Susac syndrome received off-label treatment with natalizumab, a drug typically used for multiple sclerosis. Over up to 22 months of follow-up, both patients showed clinical stabilization and reduced disease activity on MRI and retinal angiography. The treatment was well tolerated without significant side effects. Natalizumab may be a potential off-label therapy for Susac syndrome, but more research is needed to confirm its safety and effectiveness.

Study at a glance

Abstract

Susac syndrome is a rare autoimmune endotheliopathy that affects the central nervous system, retina, and inner ear, characterized by encephalopathy, branch retinal artery occlusions, and sensorineural hearing loss. Due to the heterogeneity of its presentation, early diagnosis, and treatment remain challenging. To evaluate the clinical outcomes and radiological responses in two patients with Susac syndrome treated with natalizumab in an off-label therapeutic approach, clinical assessments and serial magnetic resonance imaging (MRI) were performed over a follow-up period of up to 22 months to monitor disease progression and treatment response. Both patients demonstrated clinical stabilization with reduced MRI and retinal angiography disease activity. Treatment was well tolerated, and no significant adverse events were reported during observation. Natalizumab may constitute a potential off-label therapeutic for Susac syndrome. Further studies are warranted to assess its efficacy and safety in this rare condition.