RECRUITINGOBSERVATIONAL

Transcriptomic Study of Adult Population With Marfan Syndrome

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: General criteria: - Clinically and genetically determined Marfan syndrome (according to the revised Ghent-criteria 2010) - Signed willing to sign a consent form - 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 Who Should NOT Join This Trial: - 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 Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

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

Treatments Being Tested

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.

Locations (1)

Irccs Policlinico San Donato

San Donato Milanese, Milan, Italy