Meet Dr. Robin van Steenhoven

August 15, 2023

Dr. Robin van Steenhoven (Erasmus MC University Medical Center, Rotterdam, The Netherlands) was awarded a 2023 AEA Community Seed Grant for the investigation of Seronegative autoimmune encephalitis: exploration of clinical and neuropathological characteristics. Learn more about his research and how it will impact those affected with autoimmune encephalitis. The start date for the award is September 1, 2023.

You have been awarded an AEA Community Seed Grant, can you tell us more about the study you plan to do?

First of all, I would like to thank the AEA Community for this unique and honorable opportunity. I also would like to congratulate the other applicants that have been awarded the 2023 AEA Seed Grant.

The aim of this study is to further explore the area of seronegative-autoimmune encephalitis (AE) in adult patients. Despite major progress in the field of AE in the past decade, seronegative AE still remains a relatively unknown group of disorders. However, seronegative AE represents a significant part of AE and a poor outcome is observed in a substantial part of patients, emphasizing the high impact of this disease. Seronegative AE probably constitutes a group of heterogeneous disorders with various unexplored pathogenic mechanisms requiring different treatment strategies. Therefore, further characterization and subcategorization of this collection of disorders is essential.

In this observational study, we aim to describe the clinical characteristics, treatments and outcomes in a cohort of seronegative AE from the Netherlands. In addition, key histopathological features in brain tissue of patients with seronegative AE obtained by biopsy or autopsy will be described. Characterization of the neuropathological features and clinicopathologic correlations of seronegative AE are an excellent opportunity to further clarify relevant unexplored pathophysiological mechanisms in order to further subcategorize the disease spectrum and define important neuropathological characteristics of seronegative AE. Altogether this will open the way to develop precision treatments based on pathophysiological mechanisms and to select patients with clinicopathological similarities to discover novel (pathogenic) antibodies, transferring presumed seronegative patients into the spectrum of seropositive AE. The study will be executed at the Erasmus MC University Medical Centre.

How will your study help patients and families affected by AE?

Seronegative AE is characterized by an enormous burden for patients and caregivers, which is illustrated by the fact that the outcome of seronegative AE is still unfavorable in a substantial part of patients (around 40% remains ADL dependent). Notably, this outcome is worse compared to various subtypes of seropositive AE. In addition, a correct diagnosis of seronegative AE is often difficult and time consuming, involving various extensive investigation and multiple referrals. Therefore, improvement of diagnosis and treatment is necessary in seronegative AE. Further characterization of seronegative AE will contribute to the awareness and recognition of the disease, resulting in an earlier and correct diagnosis. In addition, subtyping within the group of seronegative AE will open the way to describe new subtypes of seropositive AE, by identification of new autoantibodies and clinical syndromes. This is essential for the development of targeted treatments and provides the opportunity to further expand the phenotype of AE in patients with unexplained clinical syndromes, also beyond the scope of seronegative AE.

Tell us more about yourself and your affiliation?

I am a neurologist and clinical research fellow in neuroimmunology at the group of Maarten Titulaer at the Erasmus University Medical Center Rotterdam. Our center serves as the national Academic Center of Excellence for autoimmune encephalitis (AE) and related disorders, and has been accredited a NFU and European Reference Network site (ERN-RITA). I have attend a clinical fellowship in both neuroimmunology and neurodegenerative diseases. I focus, within the field of AE and touching upon cognitive neurology, on rapidly progressive dementia, neuropathology and seronegative AE. Early in my career, as a neurology resident, I already became interested by the complex clinical presentation and underlying pathogenic mechanisms of AE. At the same time, I also noticed the enormous burden of this disease for patients and caregivers, caused by the complexity of the diagnostic process, severity of neurological disabilities and long-term impact on quality of life and functioning. Motivated and inspired by the patients and families I have met, it became my ambition to study and optimize the diagnostic process and treatment of AE.

Thank you to the entire AE Alliance community for the commitment to changing the course of AE. Thank you to the researchers applying for the AEA Community Seed Grant program and to the AE Alliance community, friends and family members for donating to the AEA Research Network. It is your donations that allow us to fund research focused on improving the lives of people living with AE.

Together, we are changing the course of AE.