Identifying biomarkers for aortic aneurysms in adults with Marfan Syndrome
Transcriptomic Study of Adult Population With Marfan Syndrome
This study is trying to find specific markers in the blood of adults with Marfan Syndrome to better understand and manage aortic aneurysms.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 99 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | IRCCS Policlinico S. Donato Academic / other |
| Locations | 1 site (San Donato Milanese, Milan) |
| Trial ID | NCT05700175 on ClinicalTrials.gov |
What this trial studies
This observational study aims to discover circulating biomarkers associated with aortic aneurysms in adults diagnosed with Marfan Syndrome. It will analyze blood and tissue samples from three groups of patients based on the presence or absence of thoracic aortic aneurysms and the need for surgical intervention. The study will utilize transcriptomic, epigenetic, and proteomic analyses to identify differences in gene expression and inflammatory markers. The findings will be correlated with existing clinical and genetic data to enhance understanding and management of the condition.
Who should consider this trial
Good fit: Ideal candidates include adults with clinically and genetically confirmed Marfan Syndrome, with or without thoracic aortic aneurysms.
Not a fit: Patients without a confirmed diagnosis of Marfan Syndrome or those who do not meet the specific inclusion criteria will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic and treatment strategies for patients with Marfan Syndrome and associated aortic aneurysms.
How similar studies have performed: While there have been studies exploring biomarkers in Marfan Syndrome, this specific approach focusing on transcriptomic and proteomic analyses in relation to aortic aneurysms is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
San Donato Milanese, Milan
- Irccs Policlinico San Donato — San Donato Milanese, Milan, Italy (Recruiting)
Study contacts
- Principal investigator: Fabio Martelli, Dr — IRCCS Policlinico S. Donato
- Study coordinator: Fabio Martelli, Dr
- Email: fabio.martelli@grupposandonato.it
- Phone: +39 02 2643
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.