Anderson Fabry Disease - the Power of Information.

NCT07136662 | Completed

• 1 other identifier: 3924
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (1)

• FD diagnosis

  Absolute and relative number of diagnosis of Anderson Fabry disease

  6 months

Study Arms (1)

learning cardiologist

OTHER

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

Interventions

educational OTHER

see arm description

learning cardiologist

Eligibility Criteria

• Age: Up to 72 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Fondazione Policlinico Gemelli IRCCS

Roma, RM, 00168, Italy

Location

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Officials

• francesca graziani

  FPG

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: DR

Study Record Dates

• First Submitted: February 24, 2023
• First Posted: August 22, 2025
• Study Start: November 14, 2022
• Primary Completion: June 6, 2024
• Study Completion: June 6, 2024
• Last Updated: August 22, 2025

Record last verified: 2025-08

Locations

IT (1)