Transcriptomic Study of Adult Population With Marfan Syndrome

Launched by IRCCS POLICLINICO S. DONATO · Jan 17, 2023

Keywords

ClinConnect Summary

This clinical trial is studying a condition called Marfan Syndrome, which can lead to serious heart issues, particularly aortic aneurysms (enlargements of the aorta). The main goal is to find specific markers in the blood that can help doctors understand the risk of these aneurysms in adults with Marfan Syndrome. Researchers will compare different groups of patients—those who have aneurysms, those who don’t, and those who may need surgery for their aneurysms. They will look for changes in certain materials found in the blood and connect these findings to other health information to improve diagnosis and treatment options.

To participate in this trial, individuals must have been diagnosed with Marfan Syndrome, either through clinical evaluation or genetic testing. They should be between the ages of 18 to 74 and able to give their consent to join the study. Participants can expect to undergo assessments that will help researchers gather valuable information about their condition and how it affects their health. It’s important to note that individuals with certain health issues, such as severe liver or kidney disease, or those who are pregnant, cannot participate in this study.

Gender

ALL

Eligibility criteria

• 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