Monitoring Fabry Disease Progression and Treatment Response Using Biomarkers and Cardiac Imaging

What this Trial Is About

Fabry disease FD is a rare genetic disorder caused by a deficiency of the enzyme alpha-Gal A, leading to the buildup of certain lipids in the bodys cells. This condition causes serious problems affecting many organs and can lead to heart issues, kidney failure, and strokes, especially in middle-aged adults. Researchers are studying various biomarkers and cardiac imaging methods to better understand disease progression and treatment effects, focusing on patients with FD, including those with a specific cardiac variant common in Taiwan. This observational study involves two groups of adults with diagnosed Fabry disease those who have never received enzyme replacement therapy ERT and those treated with agalsidase beta, an ERT drug given according to local medical guidelines. Participants must show abnormalities in cardiac biomarkers, plasma Gb3 or Lyso-Gb3 levels, electrocardiography ECG, or cardiac imaging. The study aims to develop a scoring system that uses these measures to evaluate disease severity and response to treatment. Participants will attend clinic visits for assessments including biomarker tests and cardiac imaging over a period of up to three years. Researchers will analyze which biomarkers and imaging results best indicate disease progression and how these change with treatment. The main goal is to create a comprehensive tool to monitor Fabry disease status and treatment outcomes safely and without invasive procedures like cardiac biopsy.

Biomarkers and Cardiac Imaging Diagnostic Assay for Monitoring Patients With Fabry Disease