Ignite Creation Date:
2026-03-26 @ 3:18 PM
Ignite Modification Date:
2026-03-31 @ 1:29 PM
Study NCT ID:
NCT07336394
Status:
RECRUITING
Last Update Posted:
2026-01-21
First Post:
2026-01-03
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2026-03-25'}, 'conditionBrowseModule': {'meshes': [{'id': 'D052120', 'term': 'Glycogen Storage Disease Type IIb'}, {'id': 'D000795', 'term': 'Fabry Disease'}, {'id': 'D028227', 'term': 'Amyloid Neuropathies, Familial'}, {'id': 'D009634', 'term': 'Noonan Syndrome'}, {'id': 'D006008', 'term': 'Glycogen Storage Disease'}, {'id': 'D009202', 'term': 'Cardiomyopathies'}, {'id': 'D004194', 'term': 'Disease'}], 'ancestors': [{'id': 'D038901', 'term': 'X-Linked Intellectual Disability'}, {'id': 'D008607', 'term': 'Intellectual Disability'}, {'id': 'D019954', 'term': 'Neurobehavioral Manifestations'}, {'id': 'D009461', 'term': 'Neurologic Manifestations'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D006331', 'term': 'Heart Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D002239', 'term': 'Carbohydrate Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D059345', 'term': 'Cerebral Small Vessel Diseases'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D020271', 'term': 'Heredodegenerative Disorders, Nervous System'}, {'id': 'D019636', 'term': 'Neurodegenerative Diseases'}, {'id': 'D017772', 'term': 'Amyloid Neuropathies'}, {'id': 'D010523', 'term': 'Peripheral Nervous System Diseases'}, {'id': 'D009468', 'term': 'Neuromuscular Diseases'}, {'id': 'D028226', 'term': 'Amyloidosis, Familial'}, {'id': 'D000686', 'term': 'Amyloidosis'}, {'id': 'D057165', 'term': 'Proteostasis Deficiencies'}, {'id': 'D019465', 'term': 'Craniofacial Abnormalities'}, {'id': 'D009139', 'term': 'Musculoskeletal Abnormalities'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}, {'id': 'D006330', 'term': 'Heart Defects, Congenital'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D003240', 'term': 'Connective Tissue Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D010335', 'term': 'Pathologic Processes'}, {'id': 'D013568', 'term': 'Pathological Conditions, Signs and Symptoms'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'data of radiology imaging, clinical study and laboratory study'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'CASE_CONTROL'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 1000}, 'targetDuration': '10 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2010-01-01', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-05', 'completionDateStruct': {'date': '2030-12-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2026-01-19', 'studyFirstSubmitDate': '2026-01-03', 'studyFirstSubmitQcDate': '2026-01-03', 'lastUpdatePostDateStruct': {'date': '2026-01-21', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2026-01-13', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2028-12-30', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Incidence Rate of All-cause Death', 'timeFrame': '2-15 years', 'description': 'the incidence of all-cause death'}, {'measure': 'Incidence Rate of Cardiovascular Death', 'timeFrame': '2-15 years', 'description': 'the incidence of cadridovascular death'}, {'measure': 'Incidence Rate of Heart Transplantation', 'timeFrame': '2-15 years'}], 'secondaryOutcomes': [{'measure': 'Incidence Rate of Hospitalization Due to Heart Failure', 'timeFrame': '2-15 years'}, {'measure': 'Incidence Rate of Implantable cardioverter-defibrillator Implantation', 'timeFrame': '2-15 years'}, {'measure': 'Incidence Rate of Pacemaker Implantation', 'timeFrame': '2-15 years'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['cardiovascular magnetic resonance imaging', 'early diagnosis', 'prognosis', 'rare cardiomyopathies', 'nuclear medicine imaging', 'echocardiography'], 'conditions': ['Danon Disease', 'Fabry Disease', 'Cardiac Amyloidosis', 'Noonan Syndrome', 'Cardiac Sarcoidosis', 'Glycogen Storage Disease', 'Idiopathic Cardiomyopathy']}, 'referencesModule': {'references': [{'pmid': '39659467', 'type': 'RESULT', 'citation': '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': '39290522', 'type': 'RESULT', 'citation': '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': '39700428', 'type': 'RESULT', 'citation': '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': '32499120', 'type': 'RESULT', 'citation': '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': '39344930', 'type': 'RESULT', 'citation': '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.'}]}, 'descriptionModule': {'briefSummary': '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.\n\nThe 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.\n\nWhat 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.\n\nPersonalized 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.\n\nWhat 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.', 'detailedDescription': 'Study Objective:\n\nThis 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).\n\nClinical Problem:\n\nRare 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.\n\nMethodology \\& Innovation:\n\nThe study will employ advanced CMR techniques that move beyond standard volumetric and functional assessment. This includes, but is not limited to:\n\nT1/T2 Mapping: For quantitative tissue characterization to detect diffuse fibrosis or edema without contrast.\n\nExtracellular Volume (ECV) Fraction: To quantify the expansion of the extracellular space, a key marker in amyloidosis and other infiltrative diseases.\n\nFeature Tracking Strain Analysis: To assess subtle myocardial deformation abnormalities that precede a decline in ejection fraction.\n\nLate Gadolinium Enhancement (LGE) Pattern Refinement: For more precise characterization of scar and infiltration patterns.\n\nPotential Impact for Clinical Practice:\n\nReferral \\& Diagnosis: This research could provide more definitive, non-invasive diagnostic data, streamlining the referral pathway to specialist centers and reducing diagnostic odysseys for patients.\n\nRisk 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.\n\nManagement: By providing a more detailed "tissue phenotype," the findings could help monitor disease progression and response to emerging targeted therapies more sensitively.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Patients who have received a cardiac magnetic resonance examination since 2010 and have a suspicion of rare cardiomyopathy.\n\nExclusion Criteria:\n\n* Severe arrhythmia;\n* Severe primary cardiac valvular disease;\n* Refuse to participate in the study.'}, 'identificationModule': {'nctId': 'NCT07336394', 'briefTitle': 'Precision Diagnosis and Risk Stratification of Rare Cardiomyopathies Based on Novel Cardiac Magnetic Resonance Techniques', 'organization': {'class': 'OTHER', 'fullName': 'Chinese Academy of Medical Sciences, Fuwai Hospital'}, 'officialTitle': 'Multimodality Imaging (Cardiovascular Magnetic Resonance Imaging, Echocardiography, and Nuclear Medicine Imaging) in the Screening, Diagnosis and Risk Stratification of Rare Cardiomyopathies - a Multicenter Study', 'orgStudyIdInfo': {'id': 'CMR-RareCM'}}, 'contactsLocationsModule': {'locations': [{'zip': '100037', 'city': 'Beijing', 'status': 'RECRUITING', 'country': 'China', 'facility': 'Fuwai Hospital', 'geoPoint': {'lat': 39.9075, 'lon': 116.39723}}], 'centralContacts': [{'name': 'Minjie Lu MD, PhD', 'role': 'CONTACT', 'email': 'coolkan@163.com', 'phone': '01088396941'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'Our study data is applicable to other researchers with permmsion.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Chinese Academy of Medical Sciences, Fuwai Hospital', 'class': 'OTHER'}, 'collaborators': [{'name': 'Peking Union Medical College Hospital', 'class': 'OTHER'}, {'name': 'Beijing Anzhen Hospital', 'class': 'OTHER'}, {'name': 'The First Affiliated Hospital with Nanjing Medical University', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Director of Magnetic Resonance Imaging', 'investigatorFullName': 'Minjie Lu', 'investigatorAffiliation': 'Chinese Academy of Medical Sciences, Fuwai Hospital'}}}}