Transcriptomic Study of Adult Population With Marfan Syndrome
Key facts
- Who runs it
- IRCCS Policlinico S. Donato
- Where
- Italy1 site in 1 countryChoose a country to see its sites
- Trial code
- Status
- Active, not recruiting
- People taking part
- 99 people, planned
- Started
- 2 Nov 2021
- Expected to end
- Dec 2027
- Type of study
- Observational
- Treatments tested
- Transcriptomic, epigenetic and proteomic analysis
- Record updated
- 2 July 2026
Who can take part
- Age
- 18 years and older
- Sex
- Women and men
The registry criteria, word for word
Show all 10 criteriaShow less
Who can take part
- 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
Who cannot take part
- 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
This trial has no sites in United States.
It has sites in one country. Choose a country to see its sites.
About the trial
What the trial wants to find out
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.
Treatments tested
- Transcriptomic, epigenetic and proteomic analysis
Data and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Record updated
- 2 July 2026