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Transcriptomic Study of Adult Population With Marfan Syndrome

NCT05700175 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 99

Last updated 2025-05-13

No results posted yet for this 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.

Conditions

  • Marfan Syndrome
  • Marfan's Syndrome With Cardiovascular Manifestations

Interventions

DIAGNOSTIC_TEST

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.

Sponsors & Collaborators

  • IRCCS Policlinico S. Donato

    lead OTHER

Principal Investigators

  • Fabio Martelli, Dr · IRCCS Policlinico S. Donato

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-11-02
Primary Completion
2025-12-31
Completion
2025-12-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05700175 on ClinicalTrials.gov