PSAT074 Patient-Centered Research in Adrenal Insufficiency for Adults and Children Using a Registry and Longitudinal Cohort

: Adrenal insufficiency (AI) leads to loss of critical adrenocortical hormones and untreated can result in death from adrenal crisis. It is the final common manifestation of multiple etiologies including infection, autoimmune disease, trauma, tumor, central nervous system dysfunction and genetic factors. Basal secretion of multiple steroid hormones is reduced or absent and a stress response in cortisol secretion is inadequate or absent. There may be variation in the severity of disease related to etiology and for causes such as autoimmune AI the disease may progress over time. There is limited published data from the US on prevalence, health disparities, outcomes of care and quality of life. A patient registry and longitudinal cohort to study AI in adults was initiated in 2019. This has been expanded to include children with AI. Goals of the Registry are to characterize the natural history of AI, including an at-risk population (family history of AI or active autoimmune disease). Additional goals are to monitor outcomes of care including adrenal crises and provide insight into the impact of AI on children. METHODS: The registry has been reviewed and approved by National Jewish Health and BRANY IRB. Participants provide written informed consent. Contact with the registry is electronic using RedCap for data entry and communication. Information about the registry is disseminated through social media, patient support groups and physician practices with an effort to enroll across a broad geographic and demographic base. Initial enrollment includes characterization of medical history, events, underlying cause of AI, demographics, socioeconomic factors and quality of life inventories (SF-36, AddiQoL and EQ-5D5L). Participants provide copies of medical records and test results to allow classification of AI and these are reviewed and adjudicated. Age-appropriate data collection instruments have been developed using the PROMIS database for children to assess the impact of illness in the domains of anxiety, physical function, fatigue, cognition, and social function. Interval surveys provide longitudinal data. RESULTS: More than 500 participants have enrolled with completed data entry. More than 150 medical records have been received for adjudication. The majority of participants to date are categorized as primary AI (89%) with 3% CAH and 5% "at-risk". Sex distribution 82% female and Race, 93% white, 1.5% Black, 4% mixed. Age distribution 18-85 years, mean(SD) = 50(15). Pediatric enrollment to start Feb 2022. CONCLUSIONS: A patient registry for adrenal insufficiency that is accessible electronically is feasible and has the potential to track a geographically diverse population. Initial enrollment has been strong but developing a balanced population that reflects the US will require extensive outreach to institutions and physician practices. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.