Diagnostic Journey and Health Care Burden of Patients With Creutzfeldt-Jakob Disease in the United States: A Real-World Evidence Study.

Background and objectives: Evidence on the diagnostic journey and health care burden of patients with Creutzfeldt-Jakob disease (CJD) in the United States is limited. A real-world evidence study using a US health care claims database was undertaken to address this gap.

Methods: A retrospective observational cohort study was conducted using data from the Merative MarketScan Research Databases (01/2012-12/2020). Study population comprised adults aged 18 years or older with evidence of CJD (initial diagnosis = index date), no evidence of selected neurologic conditions after the last CJD diagnosis, and health care coverage during the 12-month pre-index period; adults meeting selection criteria are referred herein as "patients with CJD." Diagnostic journey was detailed based on evidence of symptoms and alternative neurologic conditions during the pre-index period as well as time to death (based on a proxy). Health care burden was summarized through levels of all-cause health care utilization and expenditures during the pre/post-index periods.

Results: A total of 215 patients with CJD qualified for inclusion in the study population. The mean duration from first symptom to initial CJD diagnosis was 5.0 months, and 80% of patients had ≥3 symptoms, most commonly altered mental status (82%), gait/coordination disturbance (60%), and malaise/fatigue (44%). Most patients (63%) also had ≥1 alternative diagnosis, including cerebrovascular disease (49%), peripheral vertigo (11%), and Alzheimer disease (7%); the mean duration from first alternative diagnosis to initial CJD diagnosis was 2.4 months. The mean (median) time to death (proxy) from first symptom was 7.9 (6.6) months and from initial CJD diagnosis was 2.9 (1.1) months. During the 12-month pre-index period, mean (95% CI) cumulative health care expenditures were $35,493 ($28,914-$42,722); by the end of the post-index period, cumulative expenditures averaged $93,601 ($78,878-$109,776) per patient.

Discussion: Study findings suggest that, in US clinical practice, patients with CJD present with one or more clinical symptoms affecting motor, cognitive, or other domains, and many alternative diagnoses are considered, which may prolong the diagnostic journey. Study findings also suggest that health care expenditures-especially proximate to the initial CJD diagnosis-are notably high. CJD should be considered in the differential diagnosis of adults with rapidly progressing dementia or motor disturbance.