Marfan SyndromeMaRfaNomicANCT05700175
Transcriptomic Study of Adult Population With Marfan Syndrome
An observational study of Marfan Syndrome and Marfan's Syndrome With Cardiovascular Manifestations, run by IRCCS Policlinico S. Donato at 1 site in Italy.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Marfan Syndrome, Marfan's Syndrome With Cardiovascular Manifestations
- What is being tested?
- Transcriptomic, epigenetic and proteomic analysis
- How many people
- 99 participants
- Where
- 1 siteItaly
- Study dates
- 2 Nov 2021to Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Adult, Older adult
Study population: Patients treated at the IRCCS Policlinico San Donato.
Who may be able to join
- 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.
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- 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 join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the detailed description
The investigators will collect peripheral blood and aortic aneurysm tissues specimens from consenting subjects. For all three groups of MFS patients, total RNA will be isolated from peripheral whole blood, plasma and peripheral blood mononuclear cell (PBMC) and processed for transcriptomic analyses by RNAseq. Plasma will be used to determine cytokine and chemokine levels, using a luminex panel designed for inflammation biomarkers (serum proteomics). For all patients undergoing surgery, tissue specimens will be used for transcriptomic and epigenetic analysis, histological sections and serum proteomics.
- Being tested
- Transcriptomic, epigenetic and proteomic analysis
- Keywords
- Thoracic aortic aneurysm
- Medical subject headings
- Marfan Syndrome, Aortic Aneurysm, Thoracic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Transcriptomic, epigenetic and proteomic analysisDiagnostic test
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.
What is being measured
The primary outcome is the main question the study is designed to answer.
Transcriptomic Signature in adult patients suffering of affected by Marfan syndrome
Identification of differences in transcript-expression between Marfan patients with or without thoracic aortic aneurysms (TAA) and with indication of TAA-surgery.
Measured: year 1-5
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jan 2023
- Study start2 Nov 2021
- Primary completionDec 2026 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 99 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Policlinico S. Donato
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Fabio Martelli, IRCCS Policlinico S. Donato
- Investigators
- Fabio Martelli, Dr, Principal investigator, IRCCS Policlinico S. Donato
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05700175
- Sponsor's protocol ID
- MaRfaNomicA
- Acronym
- MaRfaNomicA
- Status last verified
- Jul 2026
- First submitted
- 17 Jan 2023
- Last updated
- 2 Jul 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Transcriptomic Study of Adult Population With Marfan Syndrome
- ClinicalTrials.gov ID
- NCT05700175
- Acronym / sponsor ID
- MaRfaNomicA / MaRfaNomicA
- Keywords
- Thoracic aortic aneurysm
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 99 participants (estimated)
- Lead sponsor
- IRCCS Policlinico S. DonatoUniversity, hospital or other
- Study start
- 2 Nov 2021 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 26 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
The investigators will collect peripheral blood and aortic aneurysm tissues specimens from consenting subjects. For all three groups of MFS patients, total RNA will be isolated from peripheral whole blood, plasma and peripheral blood mononuclear cell (PBMC) and processed for transcriptomic analyses by RNAseq. Plasma will be used to determine cytokine and chemokine levels, using a luminex panel designed for inflammation biomarkers (serum proteomics). For all patients undergoing surgery, tissue specimens will be used for transcriptomic and epigenetic analysis, histological sections and serum proteomics.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- Patients treated at the IRCCS Policlinico San Donato.
Key inclusion criteria (11 listed)
- 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.
Key exclusion criteria (2 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Transcriptomic, epigenetic and proteomic analysisNext-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. | Diagnostic test | – |
Primary outcome
Transcriptomic Signature in adult patients suffering of affected by Marfan syndrome
Time frame: year 1-5
Identification of differences in transcript-expression between Marfan patients with or without thoracic aortic aneurysms (TAA) and with indication of TAA-surgery.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jul 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Fabio Martelli, Dr principal investigator
IRCCS Policlinico S. Donato
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Marfan Syndrome and Marfan's Syndrome With Cardiovascular Manifestations, run by IRCCS Policlinico S. Donato at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 2 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Transcriptomic Signature in adult patients suffering of affected by Marfan syndrome (time frame: year 1-5). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Jul 2026.