Economic and clinical burden in patients with primary hyperoxaluria treated with dialysis: A real- world evidence study in the United States

Abstract

Abstract Background: Primary hyperoxaluria (PH) is a family of rare genetic disorders characterized by dysregulation of glyoxylate metabolism. PH is associated with nephrocalcinosis and chronic kidney disease, which often requires dialysis treatment and organ transplant as the disease progresses to end-stage kidney disease. Limited patient data resulting from low incidence rates and diagnostic challenges associated with PH have prevented adequate characterization of the economic and clinical burden of the disorder. This study examined demographic characteristics, clinical markers, and healthcare utilization of dialysis-treated patients with PH. Methods: This real-world retrospective study analyzed data from the TriNetX Dataworks USA Network from October 1, 2018, to February 2, 2021. The study cohort comprised of patients with a PH diagnosis who initiated dialysis during the study period. Demographics, clinical markers, and healthcare utilization were captured during the baseline period before initiating the first dialysis and during follow-up. Clinical disease progression was assessed via eGFR measurements and the number of kidney stone events (KSE). Results: A total of 47 patients with PH were eligible for this analysis, of whom just 46.8% received a clinical diagnosis of PH before initiating dialysis. The mean age of the cohort was 58.7 years, and the majority of patients were female (53.2%), White (85.1%), and non-Hispanic/Latino (78.7%). The mean value of the earliest eGFR measurement was 27.2 mL/min, and 42.6% of patients had documented acute renal insufficiency during the baseline period. KSEs were highest in the baseline period immediately preceding dialysis initiation. Healthcare costs within the 12 months preceding and the 12 months following dialysis initiation were a mean of $150,346 and $217,784, respectively. Conclusions: A delayed diagnosis was common among patients with PH, with over half of the cohort receiving their diagnosis after commencing dialysis. Patients with PH are burdened with high healthcare costs and complicated care pathways up to and following the first instance of dialysis. Future research focusing on strategies to improve health outcomes and address the financial burden associated with PH is warranted.