Slovenj Gradec

Researchers are conducting a multi-center, multi-country observational study to evaluate the safety and effectiveness of pegunigalsidase alfa (Elfabrio®) in people with Fabry disease. This hybrid study includes both retrospective and prospective data collection from participants treated in routine clinical care. The study focuses on adults with genetically confirmed Fabry disease who are either currently receiving or planning to receive pegunigalsidase alfa. Participants receive pegunigalsidase alfa through intravenous infusion as part of their standard care. The study includes different participant groups such as a cardiac cohort with evidence of Fabry-related heart disease, a naïve cohort with no prior Fabry therapy, and a long-term cohort previously enrolled in a related open-label study. Cardiac magnetic resonance imaging (cMRI) and other assessments are part of standard care and are used to monitor participants. During the 4-year study period, researchers will assess kidney function through estimated glomerular filtration rate (eGFR), measure plasma globotriaosylsphingosine (LysoGb3) levels, evaluate heart structure with left ventricular mass index (LVMI), and monitor heart injury markers like high sensitivity troponin (hs-cTnT). Safety assessments will be conducted throughout. Participants provide informed consent and complete electronic patient-reported outcomes to help understand treatment effects and safety over time.