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This study examines the biological features of Marfan syndrome in adults using transcriptomic, epigenetic and proteomic analyses. It enrolls adult patients with a clinically and genetically confirmed diagnosis of Marfan syndrome. It is a study without an assigned phase and is currently active but not recruiting participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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