Clinical trial NCT05450783: Tissue and Metabolic Characterization of Arrhythmogenic Cardiomyopathies by Hybrid PET-MRI Imaging, Impact of the Observed Profiles on the Phenotype and on the Evolution of Cardiomyopathy
Official title: Tissue and Metabolic Characterization of Arrhythmogenic Cardiomyopathies by Hybrid PET-MRI Imaging, Impact of the Observed Profiles on the Phenotype and on the Evolution of Cardiomyopathy
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Arrhythmogenic Cardiomyopathies
Keywords: Arrhythmogenic cardiomyopathies
PET-MR imaging
Myocardial inflammation
Prognosis
Cardiac auto-antibodies
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
Collaborators: name: University Hospital, Brest
name: University Hospital, Paris
name: University Hospital, Angers
First posted: 2022-07-11
Enrollment: 80
Sex: ALL
Minimum age (years): 16
Maximum age (years): 99
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients and their relatives with left ventricular or biventricular AC and carrier of a pathogenic or likely pathogenic variant in one of the following genes : PKP2, DSG2, DSC2, JUP, DSP, DES, FLNC, PLN, LMNA, TMEM43, CDH2, BAG3, RYR2, RBM20

Brief summary: Status of the research project: The main complications of arrhythmogenic cardiomyopathies (AC) are sudden death, more rarely heart failure. Recently, data are emerging in favor of an associated role of myocardial inflammation and myocarditis in this pathology, but the impact of inflammation on the presentation and prognosis of the cardiomyopathy, as well as its mechanisms, are not clearly elucidated. To date, endomyocardial biopsy is the gold standard for documenting myocardial inflammation.

Aim of the research: To evaluate the interest of a new hybrid PET-MR imaging tool for tissue and metabolic characterization of AC associating MRI and 18F-FDG PET, already used in inflammatory pathologies (cardiac sarcoidosis).

Project description: Multicentric observational study of 80 patients with genetic AC undergoing PET-MR. Description of the observed profiles and their impact on the phenotype of the cardiomyopathy and its evolution, study of associated immunological mechanisms, correlation with available anatomopathological data.

Expected results and perspectives: first non-invasive description of tissue and metabolic phenotype of AC by PET-MR imaging and its prognostic role, basis for pathophysiological and therapeutic research in case of confirmation of the performances of this imaging for the detection of myocardial inflammation.

Detailed description: Status of the research project: The main complications of arrhythmogenic cardiomyopathies (AC) are sudden death, more rarely heart failure. Recently, data are emerging in favor of an associated role of myocardial inflammation and myocarditis in this pathology, but the impact of inflammation on the presentation and prognosis of the cardiomyopathy, as well as its mechanisms, are not clearly elucidated. To date, endomyocardial biopsy is the gold standard for documenting myocardial inflammation.

Aim of the research: To evaluate the interest of a new hybrid PET-MR imaging tool for tissue and metabolic characterization of AC associating MRI and 18F-FDG PET, already used in inflammatory pathologies (cardiac sarcoidosis).

Project description: Multicentric observational study of 80 patients with genetic AC undergoing PET-MR. Description of the observed profiles and their impact on the phenotype of the cardiomyopathy and its evolution, study of associated immunological mechanisms, correlation with available anatomopathological data.

Expected results and perspectives: first non-invasive description of tissue and metabolic phenotype of AC by PET-MR imaging and its prognostic role, basis for pathophysiological and therapeutic research in case of confirmation of the performances of this imaging for the detection of myocardial inflammation.

Eligibility criteria: Inclusion Criteria:

* Male and female over 16 years old

Exclusion Criteria:

* Patients and their relatives with left ventricular or biventricular AC and carrier of a pathogenic or likely pathogenic variant in one of the following genes : PKP2, DSG2, DSC2, JUP, DSP, DES, FLNC, PLN, LMNA, TMEM43, CDH2, BAG3, RYR2, RBM20 Consent form

Exclusion Criteria :

* Sarcoidosis or known or diagnosed autoimmune disease
* History of myocardial infarction
* Patient under guardianship, curatorship or safeguard of justice

Primary outcomes:
measure: PET-RMI patients profile
timeFrame: one hour
Secondary outcomes:
measure: PET-RMI patterns in the right ventricle
timeFrame: one hour
measure: Prognosis according to PET-RMI patterns
timeFrame: 15-32 months
measure: Cardiac auto-antibodies according to PET-RMI patterns
timeFrame: one hour
measure: Spatial concordance
timeFrame: one hour
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU Angers
city: Brest
country: France
facility: CHU Brest
city: Nantes
country: France
facility: CHU de Nantes
city: Paris
country: France
facility: AP-HP La Salpêtrière
city: Rennes
country: France
facility: CHU de Rennes
Study officials:
affiliation: Nantes University Hospital
name: Nicolas Piriou, PH
role: PRINCIPAL_INVESTIGATOR
References: