Italian Anderson Fabry Disease Cardiovascular Registry
IRCCS Azienda Ospedaliero-Universitaria di Bologna
800 participants
Jan 26, 2022
OBSERVATIONAL
Conditions
Summary
The RICMAF Study is an observational, multicenter, non-pharmacological study conducted in Italy. Although Anderson-Fabry Disease (AFD) is rare, it is likely underdiagnosed due to its nonspecific symptoms, leading to delays in proper treatment. The RICMAF Study aims to improve understanding of AFD, especially its cardiac manifestations, which are a major cause of mortality. By gathering data from a large, nationwide patient registry, this study seeks to answer key questions about AFD's clinical course and improve patient outcomes. The primary goals of the RICMAF Study are: * To analyze the clinical profile, prevalence, and incidence of AFD, along with patients' family history and disease progression. * To identify early markers of cardiac involvement and predictors of cardiovascular complications to personalize care. * To investigate the relationship between genetic mutations, clinical presentation, and prognosis. * To find early indicators of organ damage through laboratory and imaging tests. All patients diagnosed with AFD following international guidelines are eligible.
Eligibility
Inclusion Criteria3
- Patients diagnosed with Anderson Fabry disease
- Age ≥ 2 years at diagnosis
- Obtaining informed consent from the patient and parent or legal guardian.
Exclusion Criteria1
- \- None
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Locations(54)
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NCT06806813