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

NCT07336394 | Recruiting

• 1 other identifier: CMR-RareCM
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Danon Disease; Fabry Disease; Cardiac Amyloidosis; Noonan Syndrome; Cardiac Sarcoidosis; Glycogen Storage Disease; Idiopathic Cardiomyopathy

Keywords

cardiovascular magnetic resonance imaging; early diagnosis; prognosis; rare cardiomyopathies; nuclear medicine imaging; echocardiography

Outcome Measures

Primary Outcomes (3)

• Incidence Rate of All-cause Death

  the incidence of all-cause death

  2-15 years

• Incidence Rate of Cardiovascular Death

  the incidence of cadridovascular death

  2-15 years

• Incidence Rate of Heart Transplantation

  2-15 years

Secondary Outcomes (3)

• Incidence Rate of Hospitalization Due to Heart Failure

  2-15 years

• Incidence Rate of Implantable cardioverter-defibrillator Implantation

  2-15 years

• Incidence Rate of Pacemaker Implantation

  2-15 years

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• The First Affiliated Hospital with Nanjing Medical University: collaborator
• Chinese Academy of Medical Sciences, Fuwai Hospital: lead
• Peking Union Medical College Hospital: collaborator
• Beijing Anzhen Hospital: collaborator

Study Sites (1)

Fuwai Hospital

Beijing, 100037, China

RECRUITING

Related Publications (5)

• Zhang Q, Li J, Lu M. Rare imaging phenotype of late gadolinium enhancement in a patient with anoctamin 5 mutation. Eur Heart J Case Rep. 2024 Nov 23;8(12):ytae626. doi: 10.1093/ehjcr/ytae626. eCollection 2024 Dec. No abstract available.

  PMID: 39659467 RESULT

• Yue X, Yang K, Lu M. A tale of two phenotypes: transition from hypertrophic to dilated cardiomyopathy in Danon disease. Eur Heart J Case Rep. 2024 Aug 26;8(9):ytae445. doi: 10.1093/ehjcr/ytae445. eCollection 2024 Sep. No abstract available.

  PMID: 39290522 RESULT

• Lv Y, Li JH, Lu M. Glycogen storage disease type IIIa: a rare cause of myocardial hypertrophy with multisystem involvement. Eur Heart J Cardiovasc Imaging. 2025 Mar 27;26(4):764. doi: 10.1093/ehjci/jeae328. No abstract available.

  PMID: 39700428 RESULT

• He J, Xu J, Chen L, Ji K, Fan X, Zhao S, Lu M. Clinical features and cardiovascular magnetic resonance characteristics in Danon disease. Clin Radiol. 2020 Sep;75(9):712.e1-712.e11. doi: 10.1016/j.crad.2020.04.012. Epub 2020 Jun 1.

  PMID: 32499120 RESULT

• Gu X, Dai L, Lu M. Mucolipidosis III: a rare phenocopy of inherited metabolic cardiomyopathy. Eur Heart J. 2024 Nov 8;45(42):4548. doi: 10.1093/eurheartj/ehae636. No abstract available.

  PMID: 39344930 RESULT

Biospecimen

Retention: SAMPLES WITHOUT DNA

data of radiology imaging, clinical study and laboratory study

MeSH Terms

Conditions

Glycogen Storage Disease Type IIb; Fabry Disease; Amyloid Neuropathies, Familial; Noonan Syndrome; Glycogen Storage Disease; Cardiomyopathies; Disease

Condition Hierarchy (Ancestors)

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

Central Study Contacts

Minjie Lu MD, PhD

CONTACT

01088396941; coolkan@163.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Director of Magnetic Resonance Imaging

Study Record Dates

• First Submitted: January 3, 2026
• First Posted: January 13, 2026
• Study Start: January 1, 2010
• Primary Completion (Estimated): December 30, 2028
• Study Completion (Estimated): December 30, 2030
• Last Updated: January 21, 2026

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)