Fabry DiseaseFASHIONNCT05761834
FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation
An observational study of Fabry Disease, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 to 85 yearsHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Sample blood and 2D-echocardiography with Doppler
- How many people
- 150 participants
- Where
- 1 siteItaly
- Study dates
- 27 Jan 2023to 10 Jan 2025
- How long will I take part?
- 30 Months
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 85 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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 locations and contacts
1 site in 1 country.
Italy1 site, 1 recruiting
- Recruiting
Fondazione Policlinico Gemelli
Roma, 00168
Giovanna GL Liuzzo, +39 06/30154187, giovanna.liuzzo@policlinicogemelli.it
About this study
Official title: Inflammation in Anderson-Fabry Disease and Hypertrophic Cardiomyopathy: A Comparative Study (FASHION STUDY)
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.
Read the detailed 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:
- Diagnosis Autoinflammatory disorders;
- history of recurrent infections;
- HIV infection;
- Active cancer;
- 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.
- Conditions
- Fabry Disease
- Being tested
- Sample blood and 2D-echocardiography with Doppler
- Keywords
- Hypertophic Cardiomyopathy
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Sample blood and 2D-echocardiography with DopplerOther
Also called Tissue Doppler (TD) and speckle tracking analysis and 12-leads electrocardiogram.
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.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: 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. Receives: Other: Sample blood and 2D-echocardiography with Doppler |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 1 year
Secondary outcomes (1)
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.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Mar 2023
- Study start27 Jan 2023
- Primary completion27 Jul 2023 (estimated)
- Study completion10 Jan 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 150 participants (estimated)
- Target duration
- 30 Months
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Liuzzo Giovanna, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05761834
- Sponsor's protocol ID
- 4756
- Acronym
- FASHION
- Status last verified
- Feb 2023
- First submitted
- 16 Feb 2023
- Last updated
- 9 Mar 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Mar 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Inflammation in Anderson-Fabry Disease and Hypertrophic Cardiomyopathy: A Comparative Study (FASHION STUDY)
- ClinicalTrials.gov ID
- NCT05761834
- Acronym / sponsor ID
- FASHION / 4756
- Conditions
- Fabry Disease
- Keywords
- Hypertophic Cardiomyopathy
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 150 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 27 Jan 2023 (actual)
- Primary completion
- 27 Jul 2023 (estimated)
- Study completion
- 10 Jan 2025 (estimated)
- First posted
- 9 Mar 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed 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:
- Diagnosis Autoinflammatory disorders;
- history of recurrent infections;
- HIV infection;
- Active cancer;
- 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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 30 Months
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Partecipants with Fabry Desease (FD) | – | Other: Sample blood and 2D-echocardiography with DopplerFor 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. |
| Partecipants with hypertrophic cardiomyopathy (HCM) systemic inflammation | – | Other: Sample blood and 2D-echocardiography with DopplerFor 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. |
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (8 listed)
- Age <18 years;
- Diagnosis of Autoinflammatory disorders;
- History of recurrent infections;
- HIV infection;
- Active cancer;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Sample blood and 2D-echocardiography with DopplerAlso: Tissue Doppler (TD) and speckle tracking analysis and 12-leads electrocardiogram.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. | Other | Partecipants with Fabry Desease (FD), Partecipants with hypertrophic cardiomyopathy (HCM) systemic inflammation |
Primary outcome
Investigate the inflammatory phenotype of patients with FD and patients with HCM
Time frame: 1 year
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 secondary outcome
Correlation between the inflammatory phenotype and clinical, ECG and echocardiographic features, in both the diseases
Time frame: 1 year
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 9 Mar 2023.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 8 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 9 Mar 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact GIOVANNA GL LIUZZO (+39 0630154187, giovanna.liuzzo@policlinicogemelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Investigate the inflammatory phenotype of patients with FD and patients with HCM (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 9 Mar 2023.