Clinical trial NCT05569356: Diagnostic Contribution, Prognosis and Physiopathological Aspects in Arrhythmogenic Cardiomyopathy. (ACORE)
Official title: Biomarkers of Inflammation and Autoimmunity: Diagnostic Contribution, Prognosis and Physiopathological Aspects in Arrhythmogenic Cardiomyopathy.
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Arrhythmogenic Cardiomyopathy
Keywords: Arrhythmogenic Cardiomyopathy
Inflammatory biomarkers
Autoantibodies
Lead sponsor: Assistance Publique - Hôpitaux de Paris
Sponsor class: OTHER
First posted: 2022-10-06
Enrollment: 300
Sex: ALL
Minimum age (years): 18
Maximum age (years): 100
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All adult patients with clinical or preclinical Arrhythmogenic Cardiomyopathy (carrier of risk mutation). The retrospective patients will be informed by mail and the prospective patients will be informed during their routine care visit, both using the opt-out approach.

Brief summary: This study aims to identify novel inflammatory biomarkers in AC, whether in circulating blood, in situ or as imaging biomarkers to better understand the pathophysiology of the disease and then to determine contribution to the clinical management of patients.

Detailed description: The treatment of AC remains based on palliative measures aimed at treating the consequences of the disease: antiarrhythmic treatments, defibrillator, treatments for heart failure. The identification of new biomarkers, in particular circulating ones, would make it possible to open pathophysiology avenues which, in the long term, could lead to therapies targeted to autoimmunity or inflammation.

Many scientific and medical questions remain unanswered and require precise databases on the diagnostic and prognostic evaluation of this pathology.

The objective of this study is to identify novel inflammatory biomarkers in patients with AC by studying the autoimmunity, inflammatory, and immunological profiles through blood samples and myocardial biopsies.

Eligibility criteria: Inclusion Criteria:

1. Adult patient (age ≥ 18 years old)
2. Patient with a probable or confirmed diagnosis of cardiomyopathy according to the diagnostic criteria of the international task force
3. Patient carrying a pathogenic mutation responsible for cardiomyopathy
4. Patient informed individually of the research

Exclusion Criteria:

1. Patients under curatorship/guardianship
2. Pregnant women
3. Patients who expressed their opposition to participate in the study

Primary outcomes:
measure: Measure the correlation between the autoimmunity, inflammatory, and immunological profiles through biomarkers found in blood samples, myocardial biopsies, mass imaging cytometry, and cardiac imaging in patients with Arrhythmogenic Cardiomyopathy (AC)
timeFrame: 10 years
Secondary outcomes:
measure: Measure the correlation between circulating biomarkers and the severity of the phenotype determined by the severity of AC and multi-modality imaging
timeFrame: 10 years
measure: Measure the correlation between imaging biomarkers and electrocardiogram (ECG) parameters (presence of repolarization and depolarization abnormalities)
timeFrame: 10 years
measure: Measure the changes in inflammatory biomarkers in serum and cardiac imaging over time
timeFrame: 10 years
measure: Demonstrate a correlation between circulating and imaging biomarkers and the link between the extent of fibro-adipose infiltrates and the ventricular strain
timeFrame: 10 years
measure: Measure the correlation between circulating and imaging biomarker values and electro-anatomical mapping data
timeFrame: 10 years
measure: Screening for cardiotropic virus in pericardial fluid and circulating blood sampled in routine care during epicardial ablation by PCR
timeFrame: 10 years
measure: Measure the correlation between the presence of a pathogenic or common genetic variant and serum/imaging biomarkers.
timeFrame: 10 years
Other outcomes:
Locations:
city: Paris
country: France
facility: Institut de Cardiologie de la Pitié-Salpêtrière
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Estelle GANDJBAKHCH, Dr
role: PRINCIPAL_INVESTIGATOR
References: