The Global Crisis of Misdiagnosis and Challenges in Care for Rare Diseases: Sumaira Ahmed


The founder and executive director of the Sumaira Foundation discussed the increasing amount of misdiagnosis in rare diseases such as NMOSD and how it impacts these patients in terms of care and support. [WATCH TIME: 2 minutes]

WATCH TIME: 2 minutes

“I think there's still an alarming rate of misdiagnosis in our community that really needs to be addressed, specifically outside of North America. We are very privileged. What keeps me up at night is thinking about all of the patients around the world, specifically in lower middle-income countries that are being misdiagnosed or even worse, not even diagnosed with anything. They're just going blind, becoming paralyzed, and there's no rhyme or reason for it to them.”

In the clinical practice, approximately 40% of patients are misdiagnosed with multiple sclerosis or other diseases such as neuromyelitis optica spectrum disorder (NMOSD), a rare autoimmune disease associated with severe disability.1 According to a previous multicenter study published in the Multiple Sclerosis Journal, investigators observed a 12% frequent rate of misdiagnosis among patients with NMOSD in Latin America because of misapplication and misinterpretation of clinical and neuroradiological findings.2 Despite the recent advancements in the field of NMOSD, including approved treatments, misdiagnosis remains an prevalent issue in this rare disease community.

Inebilizumab (Uplizna; Horizon Therapeutics), FDA-approved in 2020, expanded the treatment options available for patients with NMOSD. More recently, Health Canada granted the approval of inebilizumab as an injection monotherapy for the treatment of adult patients with NMOSD, allowing for even greater access to patients.2 The Canadian agency based its approval on findings from the N-MOmentum study, similar to the US approval In the trial, 21 (12%) of 174 participants who received inebilizumab had an attack compared with 22 (39%) of 56 participants who received placebo (HR, 0.272; 95% CI, 0.150–0.496; P <.0001). Notably, 87.6% of patients in the AQP4-IgG+ group remained relapse-free during the 5-month period post-treatment.3

In a recent interview with NeurologyLive®, Sumaira Ahmed, the founder and executive director of the Sumaira Foundation, an advocacy organization, sat down to discuss how the global medical community can address the critical issue of misdiagnosis in lower middle income countries for patients with rare diseases like NMOSD. She also talked about the steps that can be taken to bridge the gap in specialized care, including the shortage of neuroimmunologists, to ensure patients receive the attention and treatment they need. In the absence of advocacy resources in many countries, Sumaira spoke about how the patient voice can be elevated on a global scale to influence policy changes benefiting the rare disease community.

1. Smith AD, Moog TM, Burgess KW, McCreary M, Okuda DT. Factors associated with the misdiagnosis of neuromyelitis optica spectrum disorder. Mult Scler Relat Disord. 2023;70:104498. doi:10.1016/j.msard.2023.104498
2. Carnero Contentti E, López PA, Criniti J, et al. Frequency of NMOSD misdiagnosis in a cohort from Latin America: Impact and evaluation of different contributors. Mult Scler. 2023;29(2):277-286. doi:10.1177/13524585221136259
3. FDA Approves New Therapy for Rare Disease Affecting Optic Nerve, Spinal Cord. News release. FDA. June 11, 2020. Accessed January 29, 2024.
4. Health Canada Approves UPLIZNA® (inebilizumab for injection) for the Treatment of Neuromyelitis Optica Spectrum Disorders (NMOSD). News Release. Horizon Therapeutics. Published January 16, 2024. Accessed January 29, 2024.
5. Cree BAC, Bennett JL, Kim HJ, et al. Inebilizumab for the treatment of neuromyelitis optica spectrum disorder (N-MOmentum): a double-blind, randomised placebo-controlled phase 2/3 trial. Lancet. 2019;394(10206):1352-1363. doi:10.1016/S0140-6736(19)31817-3
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