Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus.

Anita Huttner, Lawrence J Hirsch, Nicolas Gaspard, Julie Xian, Michael R Wilson, Annamaria Vezzani, Olga Taraschenko, Vincent Navarro, Sookyong Koh, Aurélie Hanin, Charles L Howe, Ingo Helbig, Danielle Decampo, Eleonora Aronica, Margaret Gopaul, Yashwanth Pulluru, Jorge Cespedes

Journal: Epilepsia 2023;64(6):1444-1457

PMID: 37039049

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Abstract

New onset refractory status epilepticus (NORSE), including its subtype with a preceding febrile illness known as febrile infection-related epilepsy syndrome (FIRES), is one of the most severe forms of status epilepticus. The exact causes of NORSE are currently unknown, and there is so far no disease-specific therapy. Identifying the underlying pathophysiology and discovering specific biomarkers, whether immunologic, infectious, genetic, or other, may help physicians in the management of patients with NORSE. A broad spectrum of biomarkers has been proposed for status epilepticus patients, some of which were evaluated for patients with NORSE. Nonetheless, none has been validated, due to significant variabilities in study cohorts, collected biospecimens, applied analytical methods, and defined outcome endpoints, and to small sample sizes. The NORSE Institute established an open NORSE/FIRES biorepository for health-related data and biological samples allowing the collection of biospecimens worldwide, promoting multicenter research and sharing of data and specimens. Here, we suggest standard operating procedures for biospecimen collection and biobanking in this rare condition. We also propose criteria for the appropriate use of previously collected biospecimens. We predict that the widespread use of standardized procedures will reduce heterogeneity, facilitate the future identification of validated biomarkers for NORSE, and provide a better understanding of the pathophysiology and best clinical management for these patients.

Address: Department of Neurology and Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.; Sorbonne Université, Institut du Cerveau ICM, Paris Brain Institute, Inserm, CNRS, Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, DMU Neurosciences 6, Paris, France.; Assistance Publique - Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, DMU Neurosciences 6, Epilepsy Unit and Department of Clinical Neurophysiology, Paris, France.; Comprehensive Epilepsy Center, Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, USA.; Universidad Autonoma de Centro America, School of Medicine, San Jose, Costa Rica.; Nebraska Medical Center, Omaha, Nebraska, USA.; Department of (Neuro) Pathology, Amsterdam Neuroscience, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Experimental Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Center for Multiple Sclerosis and Autoimmune Neurology, Mayo Clinic, Rochester, Minnesota, USA.; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Pediatrics, Children's Hospital Medical Center, University of Nebraska, Omaha, Nebraska, USA.; Department of Neurological Sciences, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Department of Acute Brain Injury, Istituto di Recerche Farmacologiche Mario Negri IRCCS, Milan, Italy.; Weill Institute for Neurosciences, Department of Neurology, University of California San Francisco, California, San Francisco, USA.; Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium.

DOI: 10.1111/epi.17600

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MeSH Terms: Humans, Biological Specimen Banks, Status Epilepticus, Seizures, Drug Resistant Epilepsy, Encephalitis, Biomarkers