The Urgency of Early Diagnosis and Treatment in Neuromyelitis Optica Spectrum Disorder: Mirla Avila, MD

WATCH TIME: 4 minutes

"Diagnosing at an early stage and starting one of the FDA-approved medications really makes a big difference in how the patient [with NMOSD] is going to do later on."

Neuromyelitis optica spectrum disorder (NMOSD) is a rare yet severe neurological condition that primarily affects the optic nerves and spinal cord. Characterized by acute relapses, the disease can lead to significant and often permanent disability.¹ The condition is frequently misdiagnosed as multiple sclerosis (MS) because of symptom overlap, which can result in inappropriate treatment with MS-specific therapies that may worsen NMOSD symptoms. As a result, timely and accurate diagnosis may be critical to initiating appropriate treatments that target the inflammatory processes specific to NMOSD. Recent advances, including biologic therapies like eculizumab (Soliris; Alexion), have improved clinicians' ability to manage the disease by preventing relapses and minimizing long-term damage.²

The importance of appropriate NMOSD treatment and disease management was a focal point at the 2025 Americas Committee for Treatment and Research in Multiple Sclerosis (ACTRIMS) Forum, held February 27 to March 1, in West Palm Beach, Florida.³ A continuing education (CE) program at the event, chaired by Shamik Bhattacharyya, MD, featured expert insights from Dean M. Wingerchuk, MD, FRCP(C), and Mirla Avila, MD. The program covered NMOSD pathogenesis, mechanisms of action of current therapies, and recent updates in clinical trial data. By the end of the session, participants were expected to understand NMOSD’s impact on patients’ daily lives, evaluate clinical trial data on emerging therapies, and implement evidence-based treatment modifications based on individual patient response.

At the meeting, Avila, who serves as the director of the Multiple Sclerosis and Demyelinating Disease Center at Texas Tech University Health Sciences Center, spoke with NeurologyLive^® about the aggressive nature of NMOSD relapses. She emphasized that without prompt treatment, these relapses can lead to irreversible disability. Avila highlighted the importance of early diagnosis, the risks associated with misdiagnosis, and the necessity of initiating FDA-approved therapies without delay. She also underscored the critical role of clinician education in recognizing atypical presentations of NMOSD, ensuring patients receive timely and appropriate care.

Click here for coverage of 2025 ACTRIMS Forum.

REFERENCES
1. Jarius S, Paul F, Aktas O, et al. Neuromyelitis optica spectrum disorders: update on diagnosis, pathophysiology, and treatment. J Neurol. 2023;270(9):4673-4694. doi:10.1007/s00415-023-11910-z
2. Mealy MA, Wingerchuk DM, Greenberg BM, Levy M, Longbrake EE. Treatment strategies and emerging therapies in neuromyelitis optica spectrum disorder. Front Neurol. 2023;14:10356911. doi:10.3389/fneur.2023.10356911
3. Bhattacharyya S, Wingerchuk DM, Avila M. A New Era in NMOSD Treatment: Optimizing Therapeutic Transitions and Reducing Patient Burden. Presented at ACTRIMS Forum 2025; February 27 to March 1; West Palm Beach, Florida. SS5.