Actively Recruiting
Transcriptomic Study of Adult Population With Marfan Syndrome
Led by IRCCS Policlinico S. Donato · Updated on 2025-05-13
99
Participants Needed
1
Research Sites
212 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Transcriptomic Study of Adult Population With Marfan Syndrome
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Clinically and genetically confirmed Marfan syndrome according to the revised Ghent criteria 2010
- Signed informed consent
- Patient receiving regular pharmacological prophylaxis or newly diagnosed
- Patients without thoracic aortic aneurysms showing normal thoracic aortic diameters
- Patients with stable thoracic aortic aneurysm dimensions over the 12 months before enrollment
- Patients with indication for surgical correction due to uncontrolled aortic diameter increase, significant valve dysfunction, or familial dissection risk
You will not qualify if you...
- Patients with chronic or acute inflammatory conditions such as chronic liver disease
- Patients with chronic renal insufficiency (creatinine > 1.5 mg/dl)
- Patients with thyroid diseases
- Pregnant patients
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Irccs Policlinico San Donato
San Donato Milanese, Milan, Italy, 20097
Actively Recruiting
Research Team
F
Fabio Martelli, Dr
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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