Ignite Creation Date:
2025-12-25 @ 2:30 AM
Ignite Modification Date:
2025-12-30 @ 11:22 AM
Study NCT ID:
NCT05761834
Status:
UNKNOWN
Last Update Posted:
2023-03-09
First Post:
2023-02-16
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D000795', 'term': 'Fabry Disease'}], 'ancestors': [{'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D059345', 'term': 'Cerebral Small Vessel Diseases'}, {'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D040181', 'term': 'Genetic Diseases, X-Linked'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'to analyze plasma biomarkers, serum proteomic profile and transcriptomic analysis in peripheral blood mononuclear cells'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 150}, 'targetDuration': '30 Months', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-01-27', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-02', 'completionDateStruct': {'date': '2025-01-10', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-02-27', 'studyFirstSubmitDate': '2023-02-16', 'studyFirstSubmitQcDate': '2023-02-27', 'lastUpdatePostDateStruct': {'date': '2023-03-09', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-03-09', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-07-27', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Investigate the inflammatory phenotype of patients with FD and patients with HCM', 'timeFrame': '1 year', 'description': 'Primary objective of the study is to investigate the inflammatory phenotype of patients with FD and patients with HCM.\n\nFor 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).'}], 'secondaryOutcomes': [{'measure': 'Correlation between the inflammatory phenotype and clinical, ECG and echocardiographic features, in both the diseases', 'timeFrame': '1 year', 'description': 'Explore whether a correlation exists between the inflammatory phenotype and clinical, ECG and echocardiographic features, in both the diseases.\n\nInvestigate 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.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Hypertophic Cardiomyopathy'], 'conditions': ['Fabry Disease']}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': '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.\n\nThis 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:\n\n1. Diagnosis Autoinflammatory disorders;\n2. history of recurrent infections;\n3. HIV infection;\n4. Active cancer;\n5. 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.\n\nSerum 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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'maximumAge': '85 Years', 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Adult patients with a genetically-proven diagnosis of FD and age-matched patients with a diagnosis of sarcomeric HCM will be enrolled.\n\nThe 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.', 'healthyVolunteers': True, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Age ≥18 years;\n* Patients with confirmed genetic diagnosis of FD19;\n* Patients with a known diagnosis of sarcomeric HCM adult (with pathogenic mutation in sarcomeric genes identified);\n* Signed informed consent.\n\nExclusion Criteria:\n\n* Age \\<18 years;\n* Diagnosis of Autoinflammatory disorders;\n* History of recurrent infections;\n* HIV infection;\n* Active cancer;\n* History of organ transplantation needing chronic immunosuppressor treatment;\n* Pregnancy\n* Refusal to sign informed consent to study participation.'}, 'identificationModule': {'nctId': 'NCT05761834', 'acronym': 'FASHION', 'briefTitle': 'FASHION Fabry Disease Hypertrophic Cardiomyopathy and Infammation', 'organization': {'class': 'OTHER', 'fullName': 'Fondazione Policlinico Universitario Agostino Gemelli IRCCS'}, 'officialTitle': 'Inflammation in Anderson-Fabry Disease and Hypertrophic Cardiomyopathy: A Comparative Study (FASHION STUDY)', 'orgStudyIdInfo': {'id': '4756'}}, 'armsInterventionsModule': {'armGroups': [{'label': '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).\n\nSerum proteomic analysis and transcriptomic analysis on peripheral blood mononuclear cells, investigating molecular mediators involved in inflammatory pathways will be also performed.\n\nPatients enrolled will also undergo a comprehensive 2D-echocardiography with Doppler, Tissue Doppler (TD) and speckle tracking analysis and 12-leads electrocardiogram.', 'interventionNames': ['Other: Sample blood and 2D-echocardiography with Doppler']}, {'label': '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.\n\nPatients enrolled will also undergo a comprehensive 2D-echocardiography with Doppler, Tissue Doppler (TD) and speckle tracking analysis and 12-leads electrocardiogram.', 'interventionNames': ['Other: Sample blood and 2D-echocardiography with Doppler']}], 'interventions': [{'name': 'Sample blood and 2D-echocardiography with Doppler', 'type': 'OTHER', 'otherNames': ['Tissue Doppler (TD) and speckle tracking analysis and 12-leads electrocardiogram.'], 'description': '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.', 'armGroupLabels': ['Partecipants with Fabry Desease (FD)', 'Partecipants with hypertrophic cardiomyopathy (HCM) systemic inflammation']}]}, 'contactsLocationsModule': {'locations': [{'zip': '00168', 'city': 'Roma', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Giovanna GL Liuzzo', 'role': 'CONTACT', 'email': 'giovanna.liuzzo@policlinicogemelli.it', 'phone': '+39 06/30154187'}], 'facility': 'Fondazione Policlinico Gemelli', 'geoPoint': {'lat': 44.99364, 'lon': 11.10642}}], 'centralContacts': [{'name': 'GIOVANNA GL LIUZZO', 'role': 'CONTACT', 'email': 'giovanna.liuzzo@policlinicogemelli.it', 'phone': '+39 0630154187'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Fondazione Policlinico Universitario Agostino Gemelli IRCCS', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Principal Investigator', 'investigatorFullName': 'Liuzzo Giovanna', 'investigatorAffiliation': 'Fondazione Policlinico Universitario Agostino Gemelli IRCCS'}}}}