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
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying adults with Marfan Syndrome (MFS) to discover circulating biomarkers linked to aortic aneurysms. The study aims to identify specific RNA transcripts, both protein-coding (mRNA) and non-coding (ncRNAs), that differ among three groups of MFS patients based on the presence or absence of thoracic aortic aneurysms (TAA) and whether they require TAA surgery. This RNA signature, called TAA_MFS_signature, will be compared with biological markers of inflammation and changes in aortic aneurysm tissue to better understand the condition. The study involves collecting blood and aortic aneurysm tissue samples from consenting participants. Total RNA will be extracted from blood components and analyzed using RNA sequencing for transcriptomic profiling. Plasma samples will be tested for inflammation-related cytokines and chemokines. For patients undergoing surgery, tissue samples will also be analyzed for transcriptomic, epigenetic, and histological features. The study will track changes in biomarkers before surgery and at 6 and 12 months afterward. Participants will have blood and tissue samples collected for analysis and undergo clinical assessments related to their Marfan Syndrome and aortic condition. Researchers will evaluate transcriptomic signatures, inflammation markers, and tissue changes to understand disease progression. The primary outcome is the identification of the transcriptomic signature in adult MFS patients over a period of up to five years. The study is observational and involves no treatment intervention, with participant involvement lasting according to the study timeline.
CONDITIONS
Brief 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 revised Ghent criteria 2010
- Signed informed consent
- Adults aged 18 years or older
- Patients receiving regular pharmacological prophylaxis or newly diagnosed
- Patients without thoracic aortic aneurysms having aortic diameters within normal limits
- Patients with stable thoracic aortic aneurysm dimensions over the past 12 months
- Patients with thoracic aortic aneurysm requiring surgical correction based on international guidelines
You will not qualify if you...
- Presence of chronic or acute inflammatory conditions such as chronic liver disease
- Chronic renal insufficiency with creatinine greater than 1.5 mg/dl
- Diseases affecting the thyroid gland
- Pregnancy
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 1 day for sample collection
Participants provide peripheral blood samples and, if undergoing surgery, tissue specimens for transcriptomic, epigenetic, and proteomic analyses related to Marfan Syndrome.
1 visit for blood collection; additional visit for tissue collection during surgery if applicable
Duration - Up to 12 months post-surgery
Participants are monitored to assess progression of biomarkers over time, including follow-ups at 6 and 12 months after surgery for those who underwent surgical correction.
Follow-up visits at 6 and 12 months post-surgery for surgical patients
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
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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