Using advanced heart MRI to improve diagnosis and risk prediction for rare cardiomyopathies

Multimodality Imaging (Cardiovascular Magnetic Resonance Imaging, Echocardiography, and Nuclear Medicine Imaging) in the Screening, Diagnosis and Risk Stratification of Rare Cardiomyopathies - a Multicenter Study

This project tests whether advanced cardiac MRI techniques can help diagnose and predict future risk for people with rare heart muscle diseases like Danon, Fabry, cardiac amyloidosis, Noonan syndrome, and cardiac sarcoidosis.

Quick facts

• Study type: Observational
• Enrollment: 1000 (estimated)
• Sex: All
• Sponsor: Chinese Academy of Medical Sciences, Fuwai Hospital (Academic / other)
• Drugs / interventions: radiation
• Locations: 1 site (Beijing)
• Trial ID: NCT07336394 on ClinicalTrials.gov

What this trial studies

This observational project applies novel cardiac magnetic resonance (CMR) biomarkers to patients with suspected rare cardiomyopathies who have had CMR scans since 2010. Researchers will analyze quantitative techniques such as T1/T2 mapping, extracellular volume (ECV) fraction, feature-tracking strain, and refined late gadolinium enhancement patterns to characterize tissue changes and subtle functional abnormalities. The goal is to improve diagnostic precision and generate individualized risk profiles that could guide timing of treatment and specialist referral. Data will be collected and compared across several tertiary cardiovascular centers to validate these imaging markers in uncommon disease subtypes.

Who should consider this trial

Good fit: Ideal candidates are people with a clinical suspicion of a rare cardiomyopathy who have undergone a cardiac MRI since 2010 and can provide imaging data or attend participating centers for imaging review.

Not a fit: Patients with severe arrhythmia or severe primary valvular disease (which are listed exclusions) and those without prior CMR imaging or unavailable images are unlikely to gain benefit from this protocol.

Why it matters

Potential benefit: If successful, patients could receive more accurate, noninvasive diagnoses and clearer personalized risk information that speeds appropriate treatment and specialist referral.

How similar studies have performed: Similar CMR mapping and ECV techniques have shown promise in conditions such as cardiac amyloidosis and Fabry disease, but applying a standardized multiparametric approach across multiple rare cardiomyopathies is relatively novel.

Eligibility criteria

Inclusion Criteria:

* Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.

Exclusion Criteria:

* Severe arrhythmia;
* Severe primary cardiac valvular disease;
* Refuse to participate in the study.

Where this trial is running

Beijing

• Fuwai Hospital — Beijing, China (Recruiting)

Study contacts

• Study coordinator: Minjie Lu MD, PhD

Conditions Danon Disease; Fabry Disease; Cardiac Amyloidosis; Noonan Syndrome; Cardiac Sarcoidosis; Glycogen Storage Disease; Idiopathic Cardiomyopathy; cardiovascular magnetic resonance imaging