Italian Anderson Fabry Disease Cardiovascular Registry

Condition(s) studied

Study 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

Primary outcome measure(s)

• Definition of Fabry disease natural history — From enrollment to mean follow-up of 5 years.
  * Prevalence of Fabry disease: number of diagnosed cases of Fabry disease per 100,000 individuals in the general population. * Incidence of Fabry disease: number of new cases of Fabry disease per year per 100,000 individuals in the general population. * Number of patients with morbidity (heart failure, arrhythmias, kidney failure, stroke) and mortality (cardiac and non cardiac death) events recorded during follow-up.

Trial sites (54)

+ 14 more sites — see the full list on the official registry below.

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