Transcriptomic Study of Adult Population With Marfan Syndrome (MaRfaNomicA)

July 1, 2026 updated by: Fabio Martelli, IRCCS Policlinico S. Donato

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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Diagnostic test: Transcriptomic, epigenetic and proteomic analysis

Detailed Description

The investigators will collect peripheral blood and aortic aneurysm tissues specimens from consenting subjects. For all three groups of MFS patients, total RNA will be isolated from peripheral whole blood, plasma and peripheral blood mononuclear cell (PBMC) and processed for transcriptomic analyses by RNAseq. Plasma will be used to determine cytokine and chemokine levels, using a luminex panel designed for inflammation biomarkers (serum proteomics). For all patients undergoing surgery, tissue specimens will be used for transcriptomic and epigenetic analysis, histological sections and serum proteomics.

Study Type

Observational

Enrollment (Estimated)

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Italy
- Milan
  - San Donato Milanese, Milan, Italy, 20097
    - IRCCS Policlinico San Donato

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Sampling Method

Probability Sample

Study Population

Patients treated at the IRCCS Policlinico San Donato.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Observational Models: Case-Control
Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Transcriptomic Signature in adult patients suffering of affected by Marfan syndrome Time Frame: 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.	year 1-5

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

IRCCS Policlinico S. Donato

Investigators

Principal Investigator: Fabio Martelli, Dr, IRCCS Policlinico S. Donato

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 2, 2021

Primary Completion (Estimated)

December 1, 2026

Study Completion (Estimated)

December 1, 2027

Study Registration Dates

First Submitted

January 17, 2023

First Submitted That Met QC Criteria