Research Assistant Western University, Ontario, Canada
Rationale: New-onset refractory status epilepticus (NORSE) is a rare clinical presentation affecting previously healthy children and adults. Febrile infection-related epilepsy syndrome (FIRES) is a subcategory of NORSE and FIRES applies when a preceding fever occurred. NORSE/FIRES are becoming increasingly recognized, with consensus definitions and approaches to care recently established. However, information pertaining to disease course and survivorship remains limited and mortality and morbidity are variable but often high. The NORSE Family Registry is an international online registry that seeks to systematically collect demographic, geographic, and outcome information for people affected by NORSE and FIRES worldwide. People permitted to access and enter data into the registry include survivors, substitute decision makers (for survivors or non-survivors) and physicians. We seek to gain insight into possible risk factors for NORSE, the spectrum of clinical outcomes, and the effect of NORSE on the quality of life in survivors. Methods: This registry uses REDCap, a web-based database. Participants or their substitute decision maker provide written informed consent. Information collected includes past medical history, clinical presentation, disease course, survivorship, clinical sequelae and quality of life, among others. The NORSE Family registry invites survivors, surrogates and health care teams alike to contribute to a systematic and international effort to gain valuable information on NORSE. Over the coming months we plan to translate the registry into multiple languages in order to increase accessibility. Results: The NORSE Family Registry was launched in December 2019 in English and enrollment is ongoing. To date, 14 participants have enrolled in the study (age range 2-38 years, mean age 14 years, 12 male, 2 female) from six different countries spanning four continents. From within the U.S., participants are from six different states. Ten of the 14 participants are survivors of NORSE/FIRES. At >six months after the onset of NORSE/FIRES, survivors experience a mean of >12 seizures per month and remain on a mean of 3.8 +/- 1.2 anti-seizure medications. The mean reported quality of life using a visual analogue scale from 0 (worst) to 10 (best) is 2.9 +/- 2.1. Conclusions: Survivors of NORSE/FIRES have a high seizure burden and poor quality of life. Ultimately, the NORSE Family Registry will contribute to our understanding of NORSE and FIRES, and provide insight into the impact of NORSE on the lives of survivors. This international multi-lingual family registry will allow researchers to collect a range of clinical and epidemiological variables that will help develop hypotheses for further prospective studies. This registry provides an opportunity for families to contribute to the scientific understanding of this devastating disease. Funding: Please list any funding that was received in support of this abstract.: Robert N. Kohn NORSE Family Registry Memorial Fund
