Manfredonia

Researchers are conducting the RICMAF Study, an observational, multicenter research project in Italy, to better understand Anderson-Fabry Disease (AFD), a rare genetic disorder that affects multiple organs, particularly the heart. This disease is often underdiagnosed due to its nonspecific symptoms, which can lead to delays in treatment. The study aims to analyze the clinical profile, genetic factors, and progression of AFD, focusing especially on cardiac involvement, which is a major cause of mortality in affected patients. The study gathers data from a nationwide patient registry including approximately 800 patients diagnosed with AFD according to international guidelines. It includes both retrospective data collection from January 1981 to 2031 and prospective enrollment of new patients. Data comes from medical records and standard clinical evaluations such as specialist visits, laboratory tests, genetic analyses, and cardiac imaging. These evaluations are part of routine care and include assessments like ECG, echocardiography, and cardiac MRI. Participants will be followed over time to collect detailed information on symptoms, family history, genetic mutations, organ involvement, and treatment outcomes. Researchers will use this data to identify early markers of cardiac damage and predictors of cardiovascular complications. The study's primary measure is the natural history of Fabry disease from enrollment through an average follow-up of five years. The study ensures data privacy and follows ethical guidelines, with no additional costs for participants beyond usual care.