In Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) systemic inflammation recently gained attention as a possible key pathophysiologic process involved in the development of cardiac hypertrophy and progression of the disease. Differences in inflammatory profile between FD and HCM have never been investigated so far.
This study investigate whether partecipants with FD and HCM have a different inflammatory phenotype defined by plasma biomarkers, serum proteomic profile and transcriptomic analysis in peripheral blood mononuclear cells. Moreover, the investigators sought to explore if a correlation exists between the inflammatory phenotype and the severity of cardiac phenotype cardiovascular events during 24 months of follow up. This will be a prospective, multicenter, observational study. Adult partecipants with a genetically-proven diagnosis of FD and age-matched patients with a diagnosis of sarcomeric HCM will be enrolled, according to the following exclusion criteria: 1. Diagnosis Autoinflammatory disorders; 2. history of recurrent infections; 3. HIV infection; 4. Active cancer; 5. History of organ transplantation needing chronic immunosuppressor treatment. For each patient, at the time of enrollment, a blood sample will be collected and plasma levels of markers of inflammation, oxidative stress and cardiac remodeling will be determined (C-reactive protein, interleukin \[IL\]-6, IL-1β, IL-2, soluble vascular cell adhesion molecule, tumor necrosis factor \[TNF\], TNF receptor 1 and 2, Myeloperoxidase, calprotectin, uric acid, asymmetric dimethyl arginine, symmetric dimethyl arginine, matrix metalloprotease \[MMP\]-2, MMP-8 and MMP-9, galectin-1, galectin-3, B-type natriuretic peptide, midregional pro-atrial natriuretic peptide, monocyte chemoattractant protein. Serum proteomic analysis and transcriptomic analysis on peripheral blood mononuclear cells, investigating molecular mediators involved in inflammatory pathways will be also performed. Partecipants enrolled will also undergo a comprehensive 2D-echocardiography with Doppler, Tissue Doppler (TD) and speckle tracking analysis and 12-leads electrocardiogram.
Study Type
OBSERVATIONAL
Enrollment
150
Investigate whether patients with FD and HCM have a different inflammatory phenotype defined by plasma biomarkers, serum proteomic profile and transcriptomic analysis in peripheral blood mononuclear cells.
Fondazione Policlinico Gemelli
Roma, Italy
RECRUITINGInvestigate the inflammatory phenotype of patients with FD and patients with HCM
Primary objective of the study is to investigate the inflammatory phenotype of patients with FD and patients with HCM. For each partecipants enrolled the investigators will record information about demographic and clinic data (age, gender, weight, height, hypertension, GLA gene mutation, sarcomeric genes mutation), conventional pharmacological therapy and specific therapy for FD patients such as Enzyme Replacement Therapy (α or β algasidase) or oral chaperon therapy (when it was started, therapeutic compliance).
Time frame: 1 year
Correlation between the inflammatory phenotype and clinical, ECG and echocardiographic features, in both the diseases
Explore whether a correlation exists between the inflammatory phenotype and clinical, ECG and echocardiographic features, in both the diseases. Investigate the relationship between the inflammatory phenotype and the occurrence of MACEs (Major Adverse Cardiovascular Events, cardiovascular death, hospitalization for HF, new-onset atrial fibrillation, evolution to end-stage phase, sustained ventricular arrhythmias and/or bradyarrhythmias requiring pacemaker implantation, heart transplantation) during 24 months of follow-up in FD and HCM.
Time frame: 1 year
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