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NCT Number: NCT07336394

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

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.

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Key information

Conditions

Danon Disease Amyloid Neuropathies Amyloid Neuropathies, Familial Amyloidosis Amyloidosis, Familial Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Carbohydrate Metabolism, Inborn Errors Cardiac Amyloidosis Cardiac Sarcoidosis Cardiomyopathies Cardiovascular Abnormalities Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Craniofacial Abnormalities Disease Fabry Disease Genetic Diseases, Inborn Genetic Diseases, X-Linked Glycogen Storage Disease Glycogen Storage Disease Type IIb Heart Defects, Congenital Heart Diseases Heredodegenerative Disorders, Nervous System Idiopathic Cardiomyopathy Intellectual Disability Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Musculoskeletal Abnormalities Musculoskeletal Diseases Nervous System Diseases Neurobehavioral Manifestations Neurodegenerative Diseases Neurologic Manifestations Neuromuscular Diseases Noonan Syndrome Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Peripheral Nervous System Diseases Proteostasis Deficiencies Skin and Connective Tissue Diseases Sphingolipidoses Vascular Diseases X-Linked Intellectual Disability

Sex eligibility

All sexes

Study type

Observational

Primary location

Fuwai Hospital

Beijing, 100037, China

Location status: Recruiting

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Incidence Rate of All-cause Death

    Time frame: 2-15 years

    the incidence of all-cause death

  2. Incidence Rate of Cardiovascular Death

    Time frame: 2-15 years

    the incidence of cadridovascular death

  3. Incidence Rate of Heart Transplantation

    Time frame: 2-15 years

Secondary outcomes

  1. Incidence Rate of Hospitalization Due to Heart Failure

    Time frame: 2-15 years

  2. Incidence Rate of Implantable cardioverter-defibrillator Implantation

    Time frame: 2-15 years

  3. Incidence Rate of Pacemaker Implantation

    Time frame: 2-15 years

Study contacts

Contact information is provided by the study sponsor or research team.

Minjie Lu MD, PhD

CONTACT

[email protected]

01088396941

Sponsors and collaborators

Lead sponsor

Chinese Academy of Medical Sciences, Fuwai Hospital

Other

Collaborators

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

Registry information

Official study title

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

Important dates

Study start
2010
Primary completion
2028
Study completion
2030
First posted
Jan 13, 2026
Registry last updated
Jan 21, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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