Manfredonia

Researchers are conducting the RICMAF Study, an observational, multicenter, non-drug study in Italy focused on Anderson-Fabry Disease AFD, a rare genetic disorder that affects multiple organs, especially the heart. The study aims to better understand AFDs clinical course, its cardiac complications, and the relationship between genetic mutations and disease progression. This research seeks to improve patient care by identifying early markers of heart involvement and predicting cardiovascular problems. The study collects data from patients diagnosed with AFD according to international guidelines, starting from January 1, 1981, through December 31, 2031. It includes both retrospective and prospective phases, gathering comprehensive clinical, genetic, laboratory, and imaging information through a national patient registry. Patients undergo regular assessments as part of their standard care, including cardiology evaluations, ECG, echocardiography, and cardiac MRI when appropriate. Participants contribute data during routine clinical visits without additional study-specific procedures. The research team collects information from medical records and follow-up visits, including family history, symptoms, genetic tests, and heart monitoring results. The primary outcome is to define the natural history of Fabry disease over an average follow-up of five years, while secondary outcomes focus on cardiac risk stratification, genotype correlations, and early diagnostic biomarkers. The study duration extends up to 10 years, with ongoing data analysis and publication of findings.