What was your consortium's most significant achievement from the past year?
Grace Gombolay, MD, Principal Investigator, ARISEN: Our most significant achievement over the past year was successfully establishing the operational, scientific, and governance infrastructure needed to launch ARISEN as a fully functioning research consortium.
What did this achievement accomplish?
Kristy Murray, DVM, PhD, Principal Investigator, ARISEN: We made significant progress in establishing the ARISEN consortium during the reporting period. Key accomplishments included forming both an Executive Committee and an External Advisory Committee; identifying 24 participating sites and site principal investigators; and strengthening engagement with patient advocacy group (PAG) partners. The consortium finalized and received IRB approval for a unified study protocol and informed consent forms across all three consortium projects, while also developing data-sharing and publication policies. REDCap databases were created for all studies to support data collection and management. In addition, the consortium launched pilot and early stage investigator funding programs, established regular meetings with the National Institutes of Health (NIH), the RDCRN Data Management and Coordinating Center (DMCC), and PAG partners, and introduced the ARISEN website and branding. The team also developed the curriculum for ARISEN Research Rising, a career development program for early career investigators. These efforts culminated in the first in-person consortium meeting, which brought together 32 attendees from across the United States, including eight representatives from patient advocacy organizations.
How will this impact the rare disease community?
Dr. Gombolay: ARISEN is creating a sustainable infrastructure that will accelerate research, improve collaboration, and expand opportunities for patients and families affected by rare neuroinflammatory disorders. By bringing together two previously independent initiatives, the CONNECT registry and the NORSE biorepository, ARISEN has united pediatric and adult researchers, patient advocacy organizations, and clinical sites into a single collaborative network. This integration expands access to both patient registry and biospecimen resources across the lifespan, increases research participation opportunities for patients, and enables larger, more comprehensive studies that would not be feasible at individual centers. ARISEN is fostering a unified rare disease community that brings together patients, caregivers, advocacy groups, clinicians, and researchers to accelerate discovery and improve outcomes for individuals living with rare neuroinflammatory disorders.
How will this advance the goals of your consortium and/or the RDCRN at large?
Dr. Murray: ARISEN will advance both the consortium’s goals and the broader mission of the RDCRN by establishing the infrastructure, resources, and collaborative network needed to accelerate research in rare neuroinflammatory disorders. Through its three projects, ARISEN will generate longitudinal natural history data, evaluate patient- and caregiver-reported outcomes, and identify immunologic and biomarker signatures that may improve diagnosis, treatment selection, and long-term outcomes for patients with autoimmune encephalitis, Rasmussen syndrome, and new-onset refractory status epilepticus (NORSE)/febrile infection-related epilepsy syndrome (FIRES). ARISEN will also contribute valuable resources to the rare disease research community. The expansion of the Children's Clinical and Translational Discovery Core at Emory to house the ARISEN biorepository will create a centralized resource for biospecimen collection and future biomarker discovery efforts to support the RDCRN.