Italian Anderson Fabry Disease Cardiovascular Registry

Recruiting now

Conditions studied: Fabry Disease

In brief

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.

Key facts

Study ID
NCT06806813
Run by
IRCCS Azienda Ospedaliero-Universitaria di Bologna
People needed
800
Starts
2022-01-26
Expected to finish
2031-12-31
Last updated by the study team
2025-02-04

Who can join

Age: 2 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

You may not qualify if…

Where it is running

Full record on ClinicalTrials.gov

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