Fabry DiseaseNCT07136662
Anderson Fabry Disease - the Power of Information.
A study testing educational in people with Fabry Disease, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 72 years
- Conditions the study is for
- Fabry Disease
- What is being tested?
- educational
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 20 participants
- Where
- 1 siteItaly
- Study dates
- 14 Nov 2022to 6 Jun 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 72 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- 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.
Who cannot join
- NA
Trial locations and contacts
1 site in 1 country.
About this study
Official title: How to Improve the Diagnosis of Anderson-Fabry Disease - the Power of Knowledge.
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.
Read the 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
- Being tested
- educational
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
educationalOther
see arm description
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Other: educational |
What is being measured
The primary outcome is the main question the study is designed to answer.
FD diagnosis
Absolute and relative number of diagnosis of Anderson Fabry disease
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Aug 2025
- Study start14 Nov 2022
- Primary completion6 Jun 2024
- Study completion6 Jun 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 20 participants (actual)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Graziani Francesca, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
- Investigators
- francesca graziani, Principal investigator, FPG
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07136662
- Sponsor's protocol ID
- 3924
- Status last verified
- Aug 2025
- First submitted
- 24 Feb 2023
- Last updated
- 22 Aug 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 22 Aug 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- How to Improve the Diagnosis of Anderson-Fabry Disease - the Power of Knowledge.
- ClinicalTrials.gov ID
- NCT07136662
- Acronym / sponsor ID
- 3924
- Conditions
- Fabry Disease
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 20 participants (actual)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 14 Nov 2022 (actual)
- Primary completion
- 6 Jun 2024 (actual)
- Study completion
- 6 Jun 2024 (actual)
- First posted
- 22 Aug 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| learning cardiologist | Other | Other: educationalthere 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 |
Who may qualify
- Ages
- Up to 72 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (1 listed)
- NA
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| educationalsee arm description | Other | learning cardiologist |
Primary outcome
FD diagnosis
Time frame: 6 months
Absolute and relative number of diagnosis of Anderson Fabry disease
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Aug 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
francesca graziani principal investigator
FPG
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing educational in people with Fabry Disease, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Aug 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
FD diagnosis (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Aug 2025.