ClinicalTrials.Veeva

Menu

FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation

I

Institute of Hospitalization and Scientific Care (IRCCS)

Status

Enrolling

Conditions

Fabry Disease

Treatments

Other: Sample blood and 2D-echocardiography with Doppler

Study type

Observational

Funder types

Other

Identifiers

Details and patient eligibility

About

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.

Full description

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.

Enrollment

150 estimated patients

Sex

All

Ages

18 to 85 years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

  • Age ≥18 years;
  • Patients with confirmed genetic diagnosis of FD19;
  • Patients with a known diagnosis of sarcomeric HCM adult (with pathogenic mutation in sarcomeric genes identified);
  • Signed informed consent.

Exclusion criteria

  • Age <18 years;
  • Diagnosis of Autoinflammatory disorders;
  • History of recurrent infections;
  • HIV infection;
  • Active cancer;
  • History of organ transplantation needing chronic immunosuppressor treatment;
  • Pregnancy
  • Refusal to sign informed consent to study participation.

Trial design

150 participants in 2 patient groups

Partecipants with Fabry Desease (FD)
Description:
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-1). Serum proteomic analysis and transcriptomic analysis on peripheral blood mononuclear cells, investigating molecular mediators involved in inflammatory pathways will be also performed. Patients enrolled will also undergo a comprehensive 2D-echocardiography with Doppler, Tissue Doppler (TD) and speckle tracking analysis and 12-leads electrocardiogram.
Treatment:
Other: Sample blood and 2D-echocardiography with Doppler
Partecipants with hypertrophic cardiomyopathy (HCM) systemic inflammation
Description:
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-1). Serum proteomic analysis and transcriptomic analysis on peripheral blood mononuclear cells, investigating molecular mediators involved in inflammatory pathways will be also performed. Patients enrolled will also undergo a comprehensive 2D-echocardiography with Doppler, Tissue Doppler (TD) and speckle tracking analysis and 12-leads electrocardiogram.
Treatment:
Other: Sample blood and 2D-echocardiography with Doppler

Trial contacts and locations

1

Loading...

Central trial contact

GIOVANNA GL LIUZZO

Data sourced from clinicaltrials.gov

Clinical trials

Find clinical trialsTrials by location
© Copyright 2025 Veeva Systems