Anderson Fabry Disease - the Power of Information.

NCT ID: NCT07136662

Last Updated: 2025-08-22

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 20 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2022-11-14
• Study Completion Date: 2024-06-06

Brief Summary

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.

Detailed Description

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.

Conditions

Fabry Disease

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

learning cardiologist

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

Group Type: OTHER

educational

Intervention Type: OTHER

see arm description

Interventions

educational

see arm description

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

Patients with hypertrophic cardiomyopathy and features suggestive of possible Anderson-Fabry disease, defined as one of the following:

• Patients with left ventricular hypertrophy (LVH) of unknown aetiology (diagnosed in/after the 3rd decade of life) defined by a wall thickness≥13 mm measured on echocardiography or cardiac magnetic resonance, in absence of male-to-male transmission and co-existent pathologies that could explain the increased LV wall thickness (i.e. hypertension, aortic stenosis);
• Patients with LVH (diagnosed in/after the 3rd decade of life) and ECG findings frequently encountered in Fabry cardiomyopathy (short PR interval with high QRS voltage, remarkable repolarization abnormalities..);
• Patients with unexplained LVH (diagnosed in/after the 3rd decade of life) and previous history of stroke, renal failure or clinical characteristics compatible with FD multiorgan involvement.

Exclusion Criteria

NA

• Maximum Eligible Age: 72 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

OTHER

Sponsor Role: lead

Responsible Party

Graziani Francesca

DR

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

francesca graziani

Role: PRINCIPAL_INVESTIGATOR

FPG

Locations

Fondazione Policlinico Gemelli IRCCS

Roma, RM, Italy

Countries

Italy

Other Identifiers

3924

Identifier Type: -

Identifier Source: org_study_id