Prospective Study of Retinal Blood Vessels in Adults with Fabry Disease to Assess Disease Severity and Heart Risk

What this Trial Is About

This research aims to better understand endothelial dysfunction in patients with Fabry disease by studying the retinal microvasculature. Fabry disease is a rare genetic disorder that causes harmful buildup of certain substances in cells, leading to damage in the heart, brain, and kidneys. This damage increases cardiovascular risk, and researchers want to find non-invasive markers to assess disease severity and predict related health events during follow-up. Participants will undergo various non-invasive tests including dynamic and static retinal vessel analyses to measure retinal blood vessel responses and structures. Blood samples will be collected for biochemical and immune studies, and imaging tests such as cardio MRI, optical coherence tomography, and echocardiography will be performed. Additionally, questionnaires will assess quality of life, pain, and gastrointestinal symptoms. Measurements will be taken at enrollment and repeated annually for up to four years. Throughout the study, participants will have yearly assessments of retinal vessel diameters and vessel function along with monitoring for any cardiovascular or Fabry-related events. Researchers will also examine correlations between retinal markers and clinical symptoms, genetic factors, and cardiac damage. The study includes safety monitoring and aims to provide better tools to track Fabry disease progression and cardiovascular risk over time.

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