Validation and clinical discovery demonstration of a real-world data extraction platform

Nottke, Amanda; Alan, Sophia; Brimble, Elise; Cardillo, Anthony B; Henderson, Lura; Littleford, Hana E.; Rojahn, Susan; Sage, Heather; Taylor, Jessica; West-Odell, Lisandra; Berk, Alexandra

doi:10.1101/2023.02.21.23286092

Cited by 1 publication

(1 citation statement)

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“…Ciitizen is a patient-centric RWD platform that transforms medical records into structured datasets that describe phenotypes and medical interventions at the request of patient participants. 20 Ciitizen has developed an end-to-end operation that spans medical record collection through to data delivery. Medical records were collected from institutions within the United States where participants received care using the right of access granted by the Health Insurance Portability and Accountability Act (HIPAA).…”

Section: Generation Of Rwd Through the Ciitizen Platformmentioning

confidence: 99%

Computation of longitudinal phenotypes in 466 individuals with a developmental and epileptic encephalopathy enables clinical trial readiness

Brimble

Kim

Martin

et al. 2023

Preprint

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Electronic health records (EHRs) represent a rich data source to support precision medicine, particularly in disorders with small and heterogeneous populations where longitudinal phenotypes are poorly characterized. However, the impact of EHR data is often limited by incomplete or imperfect source documentation and the inability to leverage unstructured data. Here, we address these shortcomings through a computational analysis of one of the largest cohorts of developmental and epileptic encephalopathies (DEEs), representing 466 individuals across six genetically defined conditions. The DEEs encompass debilitating pediatric-onset disorders with high unmet needs for which treatment development is ongoing. By applying a platform approach to data curation and annotation of 18 clinical data entities from comprehensive medical records, we characterize variation in longitudinal clinical journeys. Assessments of the relative enrichment of phenotypes and semantic similarity analysis highlight commonalities and differences between the six cohorts. Evaluation of medication use reflects unmet needs, particularly in the management of movement disorders. We also present a novel composite measure of seizure severity that is more robust than existing measures of seizure frequency alone. Finally, we show that the attainment of developmental outcomes, including the ability to sit independently and the ability to walk, is correlated with seizure severity scores. Overall, the combined analyses demonstrate that patient-centric real world data generation, including structuring of medical records, holds promise to improve clinical trial success in rare disorders. Applications of this approach support improved understanding of baseline disease progression, selection of relevant endpoints, and definition of inclusion and exclusion criteria.

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Section: Generation Of Rwd Through the Ciitizen Platformmentioning

confidence: 99%