Characterizing rare disease healthcare utilization using a real-world data platform

The overall economic burden of rare disease surpasses that of many common diseases, yet healthcare resource utilization (HRU) patterns remain poorly understood for rare disease patients. In this study, we examined HRU over time for patients with Kleefstra syndrome and SLC6A1 epileptic encephalopathy. We discovered that while the overall quantity of HRU did not significantly change post-diagnosis, the composition of types of outpatient encounters did change significantly after diagnosis. This poster was presented at the ISPOR conference in May 2022.