Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques

January 19, 2026 updated by: Minjie Lu, Chinese Academy of Medical Sciences, Fuwai Hospital

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

What is this study about? This research is focused on improving the care for people with rare heart muscle diseases, known as rare cardiomyopathies. These are uncommon conditions where the heart muscle becomes stiff, thick, or enlarged, making it harder for the heart to pump blood. Because they are rare, they can be difficult to diagnose and manage.

The investigators are testing new, advanced ways of using a heart scan called a Cardiac Magnetic Resonance (CMR). Participants can think of a CMR as a very powerful camera that takes detailed pictures of their heart without using radiation.

What is the study trying to learn? Better Diagnosis: The investigators want to see if these new scanning techniques can help us identify these rare heart conditions more clearly and accurately. This means patients could get a correct diagnosis sooner.

Personalized Risk Assessment: The investigators want to see if the scan can help us understand the future risk for each patient better. For example, can it help predict which patients are more likely to have a heart rhythm problem or need specific treatments? This helps doctors create a care plan that is tailored just for participants.

What does this mean for participants? If participants choose to take part, they will undergo a CMR scan that uses these new techniques. By participating, they will be helping us find better ways to diagnose and care for people with their condition in the future. The goal is to turn uncertainty into clearer, more personalized information for patients and families.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Study Objective:

This study aims to validate and apply novel Cardiac Magnetic Resonance (CMR) imaging biomarkers to improve the diagnostic precision and risk stratification of rare cardiomyopathies (e.g., cardiac amyloidosis, Fabry disease, Danon disease, Noonan disease).

Clinical Problem:

Rare cardiomyopathies are often challenging to diagnose due to overlapping phenotypic features with more common disorders and their heterogeneous presentation. Current risk stratification tools are imperfect, leading to delays in diagnosis and suboptimal timing of interventions.

Methodology & Innovation:

The study will employ advanced CMR techniques that move beyond standard volumetric and functional assessment. This includes, but is not limited to:

T1/T2 Mapping: For quantitative tissue characterization to detect diffuse fibrosis or edema without contrast.

Extracellular Volume (ECV) Fraction: To quantify the expansion of the extracellular space, a key marker in amyloidosis and other infiltrative diseases.

Feature Tracking Strain Analysis: To assess subtle myocardial deformation abnormalities that precede a decline in ejection fraction.

Late Gadolinium Enhancement (LGE) Pattern Refinement: For more precise characterization of scar and infiltration patterns.

Potential Impact for Clinical Practice:

Referral & Diagnosis: This research could provide more definitive, non-invasive diagnostic data, streamlining the referral pathway to specialist centers and reducing diagnostic odysseys for patients.

Risk Stratification: The novel biomarkers investigated have the potential to offer superior prognostic value compared to current clinical models. This can aid in identifying high-risk patients earlier, guiding decisions regarding device therapy (ICD) initiation or referral for advanced therapies.

Management: By providing a more detailed "tissue phenotype," the findings could help monitor disease progression and response to emerging targeted therapies more sensitively.

Study Type

Observational

Enrollment (Estimated)

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • China
      • Beijing, China, 100037
        • Recruiting
        • Fuwai Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

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

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Incidence Rate of All-cause Death
Time Frame: 2-15 years
the incidence of all-cause death
2-15 years
Incidence Rate of Cardiovascular Death
Time Frame: 2-15 years
the incidence of cadridovascular death
2-15 years
Incidence Rate of Heart Transplantation
Time Frame: 2-15 years
2-15 years

Secondary Outcome Measures

Outcome Measure
Time Frame
Incidence Rate of Hospitalization Due to Heart Failure
Time Frame: 2-15 years
2-15 years
Incidence Rate of Implantable cardioverter-defibrillator Implantation
Time Frame: 2-15 years
2-15 years
Incidence Rate of Pacemaker Implantation
Time Frame: 2-15 years
2-15 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Chinese Academy of Medical Sciences, Fuwai Hospital

Collaborators

The First Affiliated Hospital with Nanjing Medical University
Peking Union Medical College Hospital
Beijing Anzhen Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2010

Primary Completion (Estimated)

December 30, 2028

Study Completion (Estimated)

December 30, 2030

Study Registration Dates

First Submitted

January 3, 2026

First Submitted That Met QC Criteria

January 3, 2026

First Posted (Actual)

January 13, 2026

Study Record Updates

Last Update Posted (Actual)

January 21, 2026

Last Update Submitted That Met QC Criteria

January 19, 2026

Last Verified

May 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CMR-RareCM

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

IPD Plan Description

Our study data is applicable to other researchers with permmsion.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Fabry Disease

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Djibouti

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe