Publication date: Mar 01, 2025

Classical homocystinuria (HCU) is a rare autosomal recessive disease that can affect multiple organ systems leading to increased health care resource utilization (HCRU) and costs. In this study, we aimed to utilize United States claims data to describe the all-cause HCRU and costs of HCU and to compare these when stratified by total homocysteine (tHcy) level. This was a retrospective cohort study using Optum’s de-identified Market Clarity Data from January 01, 2016, through September 30, 2021. Patients were initially selected if they had at least 1 International Classification of Diseases, Tenth Revision diagnosis code for homocystinuria (E72. 11) or homocystinuria signs, disease, and symptoms term in the Market Clarity Dataset. Patients were subsequently selected by using a multi-parameter algorithm encompassing clinical and phenotypic characteristics and tHcy levels. Patients were excluded if they had cancer, a COVID-19 hospitalization, or pregnancy. Unadjusted all-cause HCRU and costs (adjusted to 2021 United States dollars) per patient per month (PPPM) over the follow-up period were reported by health care setting using descriptive statistics. Unadjusted linear regression was used for comparisons across tHcy levels. The overall study cohort included 143 eligible patients, 61 (42. 7 %) had a tHcy level

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