What this Trial Is About

Researchers are studying endothelial dysfunction in patients with Fabry disease by examining the retinal microvasculature to find a non-invasive marker for disease severity and cardiovascular risk. Fabry disease causes harmful buildup of substances in cells, leading to damage in the heart, brain, and kidneys. This study aims to see if measurements of retinal vessels differ from healthy people, predict cardiovascular or Fabry-related events, and change over time in patients with unstable disease. The study uses various tests including dynamic retinal vessel analysis (DVA) to measure vessel responses to light flicker, static retinal vessel analysis (SVA) for retinal imaging, blood tests for clinical chemistry and immune cells, cardiac MRI to assess heart abnormalities, echocardiography, pulse wave analysis, 24-hour blood pressure monitoring, 1-hour ECG for autonomic function, and eye exams. Participants complete questionnaires about quality of life, pain, and gastrointestinal symptoms. These tests are conducted regularly to monitor the microcirculation and heart health. Participants are followed for up to 4 years with annual assessments of retinal vessel measurements and other tests. Researchers measure changes in vessel diameter, vessel ratios, and vessel dilation responses over time. They also track clinical outcomes and biomarker levels related to Fabry disease. The study includes safety monitoring and aims to improve disease management by validating new non-invasive markers and correlating them with clinical and lab data.

Characterizing the Retinal Microvasculature in Patients with Fabry Disease: a Prospective Observational Study