Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.

ABSTRACT:

Background

The cumulative economic burden of rare diseases surpasses that of common conditions, yet patterns of healthcare resource utilization (HRU) across rare diseases remain poorly characterized. This study leverages multimodal data collected during clinical care and through surveys to provide an in-depth evaluation of HRU across the disease journey of individuals with rare genetic diseases. Individuals with a confirmed diagnosis of Kleefstra syndrome (KS; n = 40) or SLC6A1 epileptic encephalopathy (SLC6A1; n = 30) were recruited. Structured and unstructured data were abstracted from participants' medical records. Encounters per person-year of follow-up were calculated and compared pre- and post-diagnosis. Parents/guardians completed surveys assessing the impact of the particip

SUBMITTER: Nichols CA 

PROVIDER: S-EPMC12232648 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature