An interventional study of educational in Fabry Disease, sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS. Completed at 1 site in Italy. Open to participants aged Up to 72 Years. Per ClinicalTrials.gov, last updated 2025-08-22.
Sponsored by Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Not applicable, Interventional, and Diagnostic
The goal of this before-after control-impact study is to determine whether providing targeted information on Fabry disease (FD) to cardiologists and tutoring them in the evaluation of patients with unexplained left ventricle hypertrophy may improve FD screening and increase FD diagnosis.
Participants (italian cardiologists from centres not experienced in cardiomyoopathies) will be given targeted information on FD viaa training course organized in two parts: a "Theoretical phase" based on on-line interactive lessons on FD and a "Tutored phase" in which the cardiologists from spoke Centers will be actively supported in the diagnostic process.
Background: In Fabry disease (FD), cardiac involvement is frequent and has strong prognostic implications. The main expression of Fabry cardiomyopathy (FC) is left ventricular hypertrophy, mimicking sarcomeric hypertrophic cardiomyopathy. Misdiagnosis is frequent and is mainly related to the lack of knowledge of rare diseases such as FD. Diagnostic delay has a significant prognostic impact in FD since Enzyme Replacement Therapy effects critically depend on the stage of the disease.
Objectives: To determine whether providing targeted information on FD to cardiologists and tutoring them in the evaluation of patients with unexplained LVH may improve FD screening, contributing to reduce both diagnostic and therapeutic delay.
Design of the study: This will be an investigator-initiated research, designed as before-after control-impact study aiming at comparing the rate of FD diagnosis before and after providing targeted information on FD to a group of Italian cardiologist from 54 spoke Centres without outpatient clinics dedicated to cardiomyopathies and with no expertise in rare diseases. The coordinator Centre (Fondazione Policlinico Universitario "A. Gemelli", Rome, Italy) will provide a training course organized in two parts: a "Theoretical phase" based on on-line interactive lessons on FD and a "Tutored phase" in which the cardiologists from spoke Centers will be actively supported in the "diagnostic process" providing them interpretative assistance of ECG and echocardiograms.
Primary outcome: to increase the rate of Fabry disease diagnosis. Statistical analyses: Descriptive statistics will be used to quantitatively describe and summarize the basic characteristics of the study data. A comparison will be made between the rate of screening test and confirmed diagnosis pre and post the provided targeted information on FD and the tutored phase.
242 studies on the registry are indexed under Fabry Disease; 54 are open to participants now.
This study's enrollment of 20 is close to the median of 22 across 105 interventional studies indexed under Fabry Disease.
Browse Fabry Disease studies →Fondazione Policlinico Universitario Agostino Gemelli IRCCS is the lead sponsor of 920 studies on the registry; 529 are open to participants now.
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Patients with hypertrophic cardiomyopathy and features suggestive of possible Anderson-Fabry disease, defined as one of the following:
Exclusion Criteria:
NA
there will be no arm as the intervention of the study is educational. The promoting centre will enroll other centres with no expertise in rare diseases and will provide targeted information on Fabry cardiomyopathy via webinar. The number of patients diagnosed with Fabry disease before and after the study will be the main endpoint
Other: educational
see arm description
FD diagnosis
Absolute and relative number of diagnosis of Anderson Fabry disease
Time frame: 6 months
Plan to share: Undecided
No publications or documents are linked to this record.
This study is completed, as verified in Aug 2025. You cannot join it, but the record below documents what was studied.
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Fondazione Policlinico Universitario Agostino Gemelli IRCCS