Familial Thoracic Aortic Aneurysm and Aortic DissectionORPHADIAGNCT06783803
Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms
An observational study of Familial Thoracic Aortic Aneurysm and Aortic Dissection, run by IRCCS Policlinico S. Donato at 1 site in Italy.
Trial summary
The aim of this study is to describe the effectiveness of the application of Linkage Analysis, compared to the standard procedures currently provided by the italian NHS, in the identification of thoracic aortic aneurysms and dissection (TAAD) transmission markers in individuals with familial TAAD. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Familial Thoracic Aortic Aneurysm and Aortic Dissection
- What is being tested?
- Linkage Analysis
- How many people
- 20 participants
- Where
- 1 siteItaly
- Study dates
- 15 Jun 2024to Jun 2029
- How long will I take part?
- 5 Years
- 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
- No healthy volunteers
- Adult, Older adult
Study population: Families of patients with FTAAD in follow-up in an italian reference centre for genetic aorthopathies.
Who may be able to join
- Patients with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Subjects with small and medium artery aneurysms in the absence of a mutation identified by WES
- Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Signed informed consent
Who cannot join
- Subjects wit syndromic FTAAD with WES identified gene mutation
- Subjects wit non-syndromic FTAAD with WES identified gene mutation
Trial locations and contacts
1 site in 1 country.
About this study
The aim of this study is to describe the effectiveness of the application of Linkage Analysis, compared to the standard procedures currently provided by the italian NHS, in the identification of thoracic aortic aneurysms and dissection (TAAD) transmission markers in individuals with familial TAAD.
Read the detailed description
According to current guidelines, it is important to screen first-degree relatives of patients with familial thoracic aortic aneurysm and dissection (FTAAD) using imaging techniques in order to detect any undiagnosed or asymptomatic cases. The current diagnostic methods for FTAAD involve clinical and instrumental diagnosis. In addition to these methods, genetic analysis through DNA testing, using a blood sample has become an essential tool. The use of massive parallel sequencing (NGS) of multiple genes or the entire exome (Whole Exome Sequencing - WES) is considered the gold standard for genetic diagnosis of FTAAD. However, it should be noted that linkage studies are not currently included in the diagnostic protocols of the Italian National Health System, although they may be helpful in complex familial cases where DNA sequencing has not provided conclusive evidence.
- Being tested
- Linkage Analysis
- Keywords
- familial thoracic aortic aneurysm and dissection, Linkage analysis, biomarkers
- Medical subject headings
- Aortic Aneurysm, Familial Thoracic 1
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Linkage AnalysisDiagnostic test
WES-Linkage analysis in families with FTAAD in follow-up in an Italian reference centre for genetic aorthopathies
| Study group | Role | What they receive |
|---|---|---|
| FTAAD | members of families with FTAAD Receives: Diagnostic Test: Linkage Analysis |
What is being measured
The primary outcome is the main question the study is designed to answer.
DNA sequences in FTAAD
Identify those chromosome regions containing the DNA sequences responsible for each enrolled member of FTAAD families
Measured: 16 months
Secondary outcomes (1)
Mutations associated with Mendelian and monogenic diseases
Identification of potential sites for the location of the responsible gene and mutations associated with Mendelian and monogenic diseases.
Measured: 24 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jan 2025
- Study start15 Jun 2024
- Primary completionMay 2029 (estimated)
- Study completionJun 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Familial Thoracic Aortic Aneurysm and Aortic DissectionStudies of the same condition, open and under way.
- More trials run by IRCCS Policlinico S. DonatoThe sponsor's other registered studies.
- 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
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 20 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- IRCCS Policlinico S. Donato
- Sponsor type
- University, hospital or other
- Collaborators
- IRCCS Ospedale San Raffaele
- Responsible party
- Principal investigator, Alessandro Pini, IRCCS Policlinico S. Donato
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06783803
- Sponsor's protocol ID
- ORPHADIAG
- Acronym
- ORPHADIAG
- Status last verified
- Jan 2025
- First submitted
- 14 Jan 2025
- Last updated
- 20 Jan 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: IPD will be considered for sharing after data collection and analysis
Publications
Isselbacher EM, Lino Cardenas CL, Lindsay ME. Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762.
PubMed 27297344Carino D, Agostinelli A, Molardi A, Benassi F, Gherli T, Nicolini F. The role of genetic testing in the prevention of acute aortic dissection. Eur J Prev Cardiol. 2018 Jun;25(1_suppl):15-23. doi: 10.1177/2047487318756433.
PubMed 29708033
Study at a glance
From the registry record, last updated by the sponsor on 20 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Application of Linkage Analysis in the Identification of Novel Hereditary Factors in Familial Aneurysms
- ClinicalTrials.gov ID
- NCT06783803
- Acronym / sponsor ID
- ORPHADIAG / ORPHADIAG
- Keywords
- familial thoracic aortic aneurysm and dissection, Linkage analysis, biomarkers
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- IRCCS Policlinico S. DonatoUniversity, hospital or other
- Collaborators
- IRCCS Ospedale San Raffaele
- Study start
- 15 Jun 2024 (actual)
- Primary completion
- May 2029 (estimated)
- Study completion
- Jun 2029 (estimated)
- First posted
- 20 Jan 2025 (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.
The aim of this study is to describe the effectiveness of the application of Linkage Analysis, compared to the standard procedures currently provided by the italian NHS, in the identification of thoracic aortic aneurysms and dissection (TAAD) transmission markers in individuals with familial TAAD.
Detailed description
According to current guidelines, it is important to screen first-degree relatives of patients with familial thoracic aortic aneurysm and dissection (FTAAD) using imaging techniques in order to detect any undiagnosed or asymptomatic cases. The current diagnostic methods for FTAAD involve clinical and instrumental diagnosis. In addition to these methods, genetic analysis through DNA testing, using a blood sample has become an essential tool. The use of massive parallel sequencing (NGS) of multiple genes or the entire exome (Whole Exome Sequencing - WES) is considered the gold standard for genetic diagnosis of FTAAD. However, it should be noted that linkage studies are not currently included in the diagnostic protocols of the Italian National Health System, although they may be helpful in complex familial cases where DNA sequencing has not provided conclusive evidence.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| FTAAD | – | Diagnostic Test: Linkage Analysismembers of families with FTAAD |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Families of patients with FTAAD in follow-up in an italian reference centre for genetic aorthopathies.
Key inclusion criteria (5 listed)
- Patients with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Subjects with small and medium artery aneurysms in the absence of a mutation identified by WES
- Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Signed informed consent
Key exclusion criteria (2 listed)
- Subjects wit syndromic FTAAD with WES identified gene mutation
- Subjects wit non-syndromic FTAAD with WES identified gene mutation
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 |
|---|---|---|
| Linkage AnalysisWES-Linkage analysis in families with FTAAD in follow-up in an Italian reference centre for genetic aorthopathies | Diagnostic test | FTAAD |
Primary outcome
DNA sequences in FTAAD
Time frame: 16 months
Identify those chromosome regions containing the DNA sequences responsible for each enrolled member of FTAAD families
1 secondary outcome
Mutations associated with Mendelian and monogenic diseases
Time frame: 24 months
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 20 Jan 2025.
- Results publication: PubMed 27297344Isselbacher EM, Lino Cardenas CL, Lindsay ME. Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762.
- Results publication: PubMed 29708033Carino D, Agostinelli A, Molardi A, Benassi F, Gherli T, Nicolini F. The role of genetic testing in the prevention of acute aortic dissection. Eur J Prev Cardiol. 2018 Jun;25(1_suppl):15-23. doi: 10.1177/2047487318756433.
- Individual participant dataSharing planned: No. IPD will be considered for sharing after data collection and analysis
Related trials for Familial Thoracic Aortic Aneurysm and Aortic Dissection
Active, not recruitingObservational study
Pathogenetic Basis of Aortopathy and Aortic Valve Disease
Aortopathies, Thoracic Aortic Aneurysm
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.
The record lists no contact. Use the official record to reach the sponsor.
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 Familial Thoracic Aortic Aneurysm and Aortic Dissection, 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 5 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 20 Jan 2025. 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?
DNA sequences in FTAAD (time frame: 16 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06783803, which also lists 2 linked publications.
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 20 Jan 2025.