Transcriptomic Study of Adult Population With Marfan Syndrome

NCT05700175 · tracked via the Priya Life Science Italy tracker

Sponsor

IRCCS Policlinico S. Donato

Phase

Observational

Started

2021-11-02

Last updated

2026-07-02

Condition(s) studied

Marfan SyndromeMarfan's Syndrome With Cardiovascular Manifestations

Investigational drug(s) / intervention(s)

Transcriptomic, epigenetic and proteomic analysis

Transcriptomic, 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.

Study 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

Sex

ALL

Min age

18 Years

Max age

—

Healthy volunteers

Inclusion Criteria: General criteria: * Clinically and genetically determined Marfan syndrome (according to the revised Ghent-criteria 2010) * Signed informed consent * Patient receiving regular pharmacological prophylaxis or newly diagnosed patients Population without thoracic aortic aneurysms (TAA) Patients with clinically and genetically determined Marfan syndrome, presenting thoracic aortic diameters within established normal limits (mm and base Z-score). Population with TAA "stable dimensions" Patients with clinically and genetically determined Marfan syndrome, presenting stable values for dimension / Z-score of the aortic root during the 12 months preceding the enrolment. Population with TAA with surgery indication: * Patients with clinically and genetically determined Marfan syndrome, presenting indication for surgical correctional according to the relevant International guidelines * Trend of uncontrolled increase of aortic diameter compared to previous measurements * Aortic ectasia associated to a clinically significant valve dysfunction * Evaluation of cut-off for surgical intervention dependant also on familial dissection Exclusion Criteria: * Patients with chronic or acute inflammation states, like: chronic liver disease, chronic renal insufficiency (creatinine \> 1.5 mg/dl) and diseases affecting the thyroid apparatus. * Pregnancy

Primary outcome measure(s)

Transcriptomic Signature in adult patients suffering of affected by Marfan syndrome — year 1-5
Identification of differences in transcript-expression between Marfan patients with or without thoracic aortic aneurysms (TAA) and with indication of TAA-surgery.

Trial sites (1)

Facility	City	Region	Status
Irccs Policlinico San Donato	San Donato Milanese	Milan

More IRCCS Policlinico S. Donato trials in Italy

Novel Risk Prediction Approaches for the Primary Prevention of Cardiovascular Diseases in Italy: the CVRISK-IT Trial (CVRISK-IT) Recruiting

Multivariate Approach to the Numerical Assessment of Cortical - Autonomic - VAscular Dynamic Interplay Recruiting

Heart Failure and Aortic Stenosis Transcriptome Recruiting

RNA as Prognostic Biomarkers in Patients With Acute Coronary Syndrome Recruiting

OUTcomes Evaluation of Current Therapeutic STrategies for Severe Aortic Valve steNosis anD the agING Population in ITALY Recruiting

Other trials for the same condition

Analysis of Muscular Properties in Patients With MFS and EDS Active, not recruiting

Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment Recruiting

Fibroblasts and Thoracic Aortic Aneurysms: in Vitro Characterization in With Marfan Syndrome and Genetic Aortic Diseases Enrolling by invitation

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05700175 on ClinicalTrials.gov ↗ ← All trials in Italy