FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation

NCT05761834 | Unknown

• 1 other identifier: 4756
• Study Type: observational
• Target: 150
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Fabry Disease

Keywords

Hypertophic Cardiomyopathy

Outcome Measures

Primary Outcomes (1)

• Investigate 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).

  1 year

Secondary Outcomes (1)

• Correlation between the inflammatory phenotype and clinical, ECG and echocardiographic features, in both the diseases

  1 year

Study Arms (2)

Partecipants with Fabry Desease (FD)

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.

Other: Sample blood and 2D-echocardiography with Doppler

Partecipants with hypertrophic cardiomyopathy (HCM) systemic inflammation

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.

Other: Sample blood and 2D-echocardiography with Doppler

Interventions

Sample blood and 2D-echocardiography with Doppler OTHER

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.

Also known as: Tissue Doppler (TD) and speckle tracking analysis and 12-leads electrocardiogram.

Partecipants with Fabry Desease (FD); Partecipants with hypertrophic cardiomyopathy (HCM) systemic inflammation

Eligibility Criteria

• Age: 18 Years - 85 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Adult patients with a genetically-proven diagnosis of FD and age-matched patients with a diagnosis of sarcomeric HCM will be enrolled. The spectrum of cardiomyopathies with hypertrophic phenotype encompasses heterogeneous diseases, including classic hypertrophic cardiomyopathy (HCM), due to sarcomere protein gene mutations, and several diseases mimicking HCM, such as Fabry cardiomyopathy.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead

Study Sites (1)

Fondazione Policlinico Gemelli

Roma, 00168, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

to analyze plasma biomarkers, serum proteomic profile and transcriptomic analysis in peripheral blood mononuclear cells

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Central Study Contacts

GIOVANNA GL LIUZZO

CONTACT

+39 0630154187; giovanna.liuzzo@policlinicogemelli.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 30 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: February 16, 2023
• First Posted: March 9, 2023
• Study Start: January 27, 2023
• Primary Completion: July 27, 2023
• Study Completion: January 10, 2025
• Last Updated: March 9, 2023

Record last verified: 2023-02

Locations

IT (1)