RecruitingNCT05700175

Transcriptomic Study of Adult Population With Marfan Syndrome

Sponsor

IRCCS Policlinico S. Donato

Enrollment

99 participants

Start Date

Nov 2, 2021

Study Type

OBSERVATIONAL

Conditions

Marfan Syndrome Marfan's Syndrome With Cardiovascular Manifestations

Summary

This project is designed to discover circulating biomarkers for aortic aneurysms in adults affected by Marfan Syndrome (MFS). The first aim is to identify circulating transcripts, protein-coding (mRNA) and not (ncRNAs), which show differential expression between three groups of adult patients affected by MFS, based on: presence or absence of thoracic aortic aneurysms (TAA) and indication of TAA-surgery. This obtained TAA\_MFS\_signature will then be correlated to fundamental biological parameters, like cytokines and chemokines relevant during inflammation and transcriptomic as well as epigenetics changes in aortic aneurysm tissue. Furthermore, the association of TAA\_MFS\_signature to genetic, clinical and instrumental parameters at present used for diagnosis and treatment, will be evaluated.

Eligibility

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This study investigates the genetic and molecular basis of Marfan syndrome — a hereditary connective tissue disorder that affects the heart, blood vessels, eyes, and skeleton — by analyzing gene expression (transcriptomics) in affected patients. Specifically, researchers want to understand what changes in gene activity are associated with thoracic aortic aneurysms (dangerous bulges in the aorta), which are a life-threatening complication of Marfan syndrome. You may be eligible if: - You are 18 years of age or older - You have been clinically and genetically diagnosed with Marfan syndrome according to the revised Ghent-criteria 2010 - You have signed informed consent - You are either receiving pharmacological treatment or are newly diagnosed - You fall into one of three groups: no thoracic aortic aneurysm, stable thoracic aortic aneurysm, or aneurysm with a surgical indication You may NOT be eligible if: - You have chronic or acute inflammation, including chronic liver disease, chronic renal insufficiency, or thyroid disease - You are pregnant Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

DIAGNOSTIC_TESTTranscriptomic, epigenetic and proteomic analysis

Next-generation sequencing will be used to identify differences in expression of circulating transcripts (protein-coding and not) in patients affected by Marfan Syndrome (MFS), subdivided based on the presence or absence of thoracic aortic aneurysms (TAA) and indication of TAA-surgery (TAA\_MFS\_signature). The obtained TAA\_MFS\_signature will be correlated to fundamental biological parameters by analysing: Blood-levels of cytokines and chemokines relevant for inflammation. Transcriptomic and epigenetic (Cytosine methylation) changes in aortic aneurysms tissue by Next-generation sequencing. Progression of biomarkers in surgical-patients before and at 6 and 12 months after surgery.