Multiparametric MRI for Fabry Cardiomyopathy

(FIESTA-MRI Trial)

Overseen By Kate Hanneman

Age: 18+

Sex: Any

Trial Phase: Academic

Sponsor: University Health Network, Toronto

Disqualifiers: Myocardial infarction, MRI contraindication

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Approved in 6 Jurisdictions This treatment is already approved in other countries

Compensation: Varies

Number of Visits: 1

250 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial tests whether cardiac MRI (a type of heart scan) can detect early heart problems in individuals with Fabry disease, a rare genetic disorder. The researchers aim to determine if this scan can also identify those at higher risk of heart-related issues. Participants will undergo additional MRI sequences and blood tests during routine check-ups. This trial suits adults with Fabry disease who have not experienced a heart attack and can safely undergo an MRI. As an unphased trial, it offers participants the chance to contribute to important research that could enhance early detection of heart issues in Fabry disease.

Do I need to stop my current medications for the trial?

The trial protocol does not specify whether you need to stop taking your current medications.

What prior data suggests that cardiac MRI is safe for detecting heart abnormalities in Fabry disease?

Research has shown that cardiac MRI, a heart imaging test, is generally safe. Studies have found it to be well-tolerated and free of major side effects in patients with Fabry disease. Cardiac MRI aids doctors in early detection of heart problems and more effective disease management. This non-invasive test does not involve surgery or inserting anything into the body. Overall, cardiac MRI has a strong safety record and serves as an important tool for diagnosing and monitoring heart conditions. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about using multiparametric MRI for Fabry cardiomyopathy because it offers a non-invasive way to gather detailed information about the heart's structure and function. Unlike traditional diagnostic methods, which might include invasive biopsies or less detailed imaging techniques, this approach combines cardiac MRI with ECG and blood biomarkers to provide a comprehensive view of heart health. This method could lead to earlier and more accurate detection of heart involvement in Fabry disease, potentially improving patient outcomes by tailoring treatments more effectively.

What evidence suggests that cardiac MRI is effective for detecting early heart abnormalities in Fabry disease?

Research has shown that cardiac MRI, a type of imaging test, helps identify heart problems related to Fabry disease. Studies have found that it can detect changes in the heart muscle that other tests might miss. In this trial, participants will undergo cardiac MRI, along with ECG and blood biomarker analysis, to assess heart health. Cardiac MRI provides a clearer view of the heart and detects issues earlier, which is crucial for managing Fabry disease. It excels at identifying early signs of heart trouble before symptoms appear. This advanced imaging method can guide treatment choices and improve patient health. ^{1 2 4 5 6}

Who Is on the Research Team?

Kate Hanneman, MD

Principal Investigator

University Health Network, Toronto

Are You a Good Fit for This Trial?

This trial is for adults over 18 with Fabry disease, aiming to detect early heart issues. It's not suitable for those who've had a heart attack or can't undergo MRI scans due to health risks or implanted medical devices.

Inclusion Criteria

I have Fabry disease.

Exclusion Criteria

I have had a heart attack before.

You cannot have an MRI for medical reasons.

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Cardiac MRI and Biomarker Assessment

Participants undergo cardiac MRI, ECG, and blood biomarker assessments to detect early myocardial abnormalities

1-2 weeks

1 visit (in-person)

Follow-up

Participants are monitored for major adverse cardiac events and changes in the FASTEX score

5 years

Periodic visits (in-person)

What Are the Treatments Tested in This Trial?

Interventions

• Cardiac MRI

Trial Overview The study tests if advanced cardiac MRI techniques can spot early signs of heart damage in Fabry patients and predict future complications better than traditional methods.

How Is the Trial Designed?

Group I: Cardiac MRI, ECG and Blood Biomarkers Experimental Treatment 1 Intervention

Additional sequences will be performed during routine clinical cardiac MRI and additional blood samples will be collected during routine blood work.

Cardiac MRI is already approved in European Union, United States, Canada, Japan, China, Switzerland for the following indications:

Approved in European Union as Cardiac MRI for:

• Congenital heart disease
• Cardiomyopathies
• Valvular heart disease
• Diseases of the aorta
• Coronary heart disease
• Cardiac tumors

Approved in United States as Cardiac MRI for:

• Coronary heart disease
• Congenital heart defects
• Heart valve problems
• Pericarditis
• Cardiac tumors
• Myocardial infarction

Approved in Canada as Cardiac MRI for:

• Cardiomyopathies
• Valvular heart disease
• Diseases of the aorta
• Coronary heart disease
• Cardiac tumors
• Myocardial infarction

Approved in Japan as Cardiac MRI for:

• Congenital heart disease
• Cardiomyopathies
• Valvular heart disease
• Diseases of the aorta
• Coronary heart disease

Approved in China as Cardiac MRI for:

• Congenital heart disease
• Cardiomyopathies
• Valvular heart disease
• Diseases of the aorta
• Coronary heart disease

Approved in Switzerland as Cardiac MRI for:

• Congenital heart disease
• Cardiomyopathies
• Valvular heart disease
• Diseases of the aorta
• Coronary heart disease

Who Is Running the Clinical Trial?

University Health Network, Toronto

Lead Sponsor

Trials

1,555

Recruited

526,000+

IRCCS Policlinico S. Donato

Collaborator

Trials

102

Recruited

108,000+

Alberta Health services

Collaborator

Trials

168

Recruited

658,000+

Libin Cardiovascular Institute of Alberta

Collaborator

Trials

4

Recruited

650+

Vancouver General Hospital

Collaborator

Trials

42

Recruited

19,700+

The Cleveland Clinic

Collaborator

Trials

1,072

Recruited

1,377,000+

Icahn School of Medicine at Mount Sinai

Collaborator

Trials

933

Recruited

579,000+

Mayo Clinic

Collaborator

Trials

3,427

Recruited

3,221,000+

University of Colorado, Denver

Collaborator

Trials

1,842

Recruited

3,028,000+

Published Research Related to This Trial

Cardiac MRI is essential for diagnosing cardiac involvement in Fabry disease, as it helps assess heart function, volume, and mass, which are critical for evaluating patient prognosis.

Measuring native myocardial T1 values through cardiac MRI can lead to early detection of cardiac issues, while tracking left ventricular myocardial mass can help monitor treatment effectiveness in patients with Fabry disease.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

[The Role of Cardiac MRI in the Diagnosis of Fabry Disease]. Hong, YJ., Kim, YJ.[2022]

Cardiac magnetic resonance feature tracking (CMR-FT) effectively identifies myocardial dysfunction in Fabry disease (FD) patients, showing significant reductions in global longitudinal strain (GLS) across all stages of the disease compared to healthy controls.

The study, involving 20 FD patients and 20 healthy controls, indicates that CMR-FT can track disease severity, with the most severe myocardial impairment observed in patients with advanced disease stages, suggesting its potential as a valuable tool for monitoring FD progression.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Quantification of myocardial deformation in patients with Fabry disease by cardiovascular magnetic resonance feature tracking imaging. Zhao, L., Zhang, C., Tian, J., et al.[2022]

Fabry disease (FD) is a genetic condition that can lead to serious heart issues, including left ventricular hypertrophy (LVH) and heart failure, making early diagnosis essential for effective treatment.

Multimodality cardiac imaging techniques, such as echocardiography and cardiovascular magnetic resonance, are crucial for diagnosing FD and monitoring its progression, helping differentiate it from other causes of LVH.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Fabry Disease: More than a Phenocopy of Hypertrophic Cardiomyopathy. Stankowski, K., Figliozzi, S., Battaglia, V., et al.[2023]

In a study of 40 patients with Fabry disease and hypertrophic cardiomyopathy, 3D late gadolinium enhancement (LGE) MRI provided comparable results to the traditional 2D MRI for quantifying myocardial fibrosis, indicating its diagnostic reliability.

The 3D imaging technique significantly reduced acquisition time (25 seconds) compared to the 2D method (349 seconds), making it a faster and more efficient option for assessing myocardial fibrosis in these patients.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy. Morsbach, F., Gordic, S., Gruner, C., et al.[2022]

In a study involving 17,767 patients across 45 European centers, only 30 acute adverse reactions (0.17%) were reported after administering gadolinium-based contrast agents during cardiac magnetic resonance imaging, all classified as mild.

The most common reactions included rashes, hives, nausea, and anxiety, with the incidence of adverse events being comparable to that seen in general radiology settings, indicating that the off-label use of these agents in CMR is safe.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Acute adverse reactions to gadolinium-based contrast agents in CMR: multicenter experience with 17,767 patients from the EuroCMR Registry. Bruder, O., Schneider, S., Nothnagel, D., et al.[2016]

Anderson-Fabry disease (AFD) leads to serious long-term heart issues, including left ventricular hypertrophy and myocardial fibrosis, which can cause complications like arrhythmias and coronary artery disease.

Cardiac magnetic resonance (CMR) imaging is crucial for diagnosing and monitoring heart involvement in AFD, utilizing advanced techniques like myocardial strain and T1/T2 mapping to assess heart function and tissue health.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Advanced CMR Techniques in Anderson-Fabry Disease: State of the Art. Ponsiglione, A., De Giorgi, M., Ascione, R., et al.[2023]

The MagnaSafe Registry is a large-scale study aiming to evaluate the safety of performing MRI on patients with non-MRI-conditional cardiac devices, involving up to 1500 MRI examinations to assess adverse events and device changes.

As of August 2012, 701 MRI studies have been completed, indicating significant progress in understanding the risks associated with MRI in patients with implanted pacemakers or defibrillators, which could lead to more informed clinical practices.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Determining the risks of clinically indicated nonthoracic magnetic resonance imaging at 1.5 T for patients with pacemakers and implantable cardioverter-defibrillators: rationale and design of the MagnaSafe Registry. Russo, RJ.[2022]

Fabry disease is a rare genetic disorder caused by a deficiency of the α-galactosidase A enzyme, leading to harmful accumulation of certain substances in various organs, particularly affecting the heart and kidneys.

Early diagnosis and treatment of Fabry disease are crucial to prevent serious complications like heart failure, and cardiovascular magnetic resonance imaging plays a key role in diagnosing and monitoring the effectiveness of treatments.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cardiac MRI in Fabry disease. Umer, M., Kalra, DK.[2023]

In a study of 1334 cardiovascular magnetic resonance (CMR) procedures for patients with congenital heart disease, the overall incidence of adverse events (AEs) was low at 1.6%, with most being minor in severity.

The use of general anesthesia and the status of being an inpatient were identified as independent risk factors for experiencing AEs, particularly in the most critically ill patients, highlighting the need for careful monitoring in these cases.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Risk factors for adverse events during cardiovascular magnetic resonance in congenital heart disease. Dorfman, AL., Odegard, KC., Powell, AJ., et al.[2013]

Cardiovascular magnetic resonance (CMR) scans can be safely performed in non-pacemaker dependent patients with pacemakers, as demonstrated in 6 scans involving 5 patients, with careful monitoring and reprogramming of the devices.

The scans provided valuable diagnostic information without significant complications, although one incident occurred where a pacemaker began pacing at maximum voltage, which was managed without any adverse effects.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Cardiovascular magnetic resonance at 0.5T in five patients with permanent pacemakers. Heatlie, G., Pennell, DJ.[2006]

In a study of 55 patients with Fabry disease followed for about 4.9 years, 16.3% experienced serious cardiac events, highlighting the importance of monitoring heart health in these patients.

Maximal wall thickness (MWT) was identified as a strong independent predictor of cardiac events, suggesting that measuring LVH through cardiac MRI can help assess risk and guide treatment decisions.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Clinical and CMR characteristics associated with cardiac events in patients with Fabry disease. Hiestand, R., Nowak, A., Sokolska, JM., et al.[2023]

In a study of 72,839 patients undergoing gadolinium-enhanced cardiac magnetic resonance imaging, the incidence of acute adverse events (AAEs) was low at 0.36%, with severe AAEs occurring in only 0.033% of cases.

AAE rates were influenced by factors such as the type of gadolinium-based contrast agent used, the presence of pharmacological stress during imaging, and the specific indications for the imaging, with higher rates observed during stress imaging.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Acute adverse events in cardiac MR imaging with gadolinium-based contrast agents: results from the European Society of Cardiovascular Radiology (ESCR) MRCT Registry in 72,839 patients. Uhlig, J., Lücke, C., Vliegenthart, R., et al.[2021]

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC9931723/

Cardiac MRI in Fabry disease - PMC This review will focus on the role of cardiovascular magnetic resonance imaging in the diagnosis, clinical decision-making, and monitoring of treatment ...

2. sciencedirect.com sciencedirect.com/science/article/pii/S2211568425000087

Cardiac magnetic resonance imaging in the follow-up of ... The purpose of this study was to evaluate the role of cardiac magnetic resonance imaging (MRI) in the follow-up of patients with Fabry disease.

3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov/40709293/

Cardiac magnetic resonance imaging in Fabry disease This review illustrates the characteristic imaging features of FD cardiomyopathy in cardiac MRI, aiming to enhance the awareness of this disease ...

4. jacc.org jacc.org/doi/10.1016/j.jcmg.2018.11.039

The Role of Cardiac Imaging in the Diagnosis and ... Advanced cardiac imaging holds promise in subclinical detection of AFD-related abnormalities as well as disease staging and prognostication.

5. mdpi.com mdpi.com/2075-4418/12/11/2652

Cardiac Magnetic Resonance in Fabry Disease Cardiac magnetic resonance (CMR) with tissue characterization capability is an accurate technique for the differential diagnosis of LV hypertrophy.

6. ahajournals.org ahajournals.org/doi/10.1161/circimaging.112.000070

Identification and Assessment of Anderson-Fabry Disease ... Anderson-Fabry disease (AFD) is a rare but underdiagnosed intracellular lipid disorder that can cause left ventricular hypertrophy (LVH).