Successful Natalizumab Treatment of Two Female Individuals With Susac Syndrome

TL;DR

This paper reports successful treatment of two Susac syndrome patients with natalizumab, showing clinical stabilization and reduced disease activity.

Contribution

The study presents natalizumab as a potential off-label treatment for Susac syndrome.

Findings

Both patients showed clinical stabilization during treatment.

MRI and retinal angiography showed reduced disease activity.

No significant adverse events were reported.

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.

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