High clinical burden of classical homocystinuria in the United States: a retrospective analysis.

ABSTRACT:

Background

Classical homocystinuria (HCU) is a rare genetic metabolic disorder resulting in elevated homocysteine and methionine levels. The clinical characteristics and associated complications of HCU are well documented. However, there is limited published research on the clinical burden of patients with HCU, especially stratified by total homocysteine (tHcy) levels. This study aimed to describe the overall clinical burden of patients with HCU in the United States and key clinical events by tHcy levels using administrative claims data.

Methods

This non-interventional retrospective cohort analysis from January 01, 2016, through September 30, 2021, used Optum's de-identified Market Clarity Data. Patients who had 1 or more International Classification of Diseases, Tenth Revis

SUBMITTER: Jain M 

PROVIDER: S-EPMC11762879 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature