Ascending Aortic DilatationNCT07034430
Aortic Dilatation Under 5 cm: Genetic Risk Mapping
An observational study of Ascending Aortic Dilatation and Aortic Aneurysm, Thoracic, run by Samsun University at 1 site in Turkey (Türkiye).
Trial summary
This retrospective study investigates the prevalence of genetic mutations in patients with ascending aortic dilatation measuring between 4.0 and 5.0 cm-below the standard surgical threshold. Read more about this study
- Who is it for?
- Ages 20 to 70 years
- Conditions the study is for
- Ascending Aortic Dilatation, Aortic Aneurysm, Thoracic, Aortic Diseases
- How many people
- 102 participants
- Where
- 1 siteTurkey (Türkiye)
- Study dates
- 1 Jan 2024to 1 Jan 2026
- 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 20 to 70 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: This study includes adult patients aged 20 to 70 years who were evaluated at the Samsun Training and Research Hospital's Cardiovascular Surgery, Cardiology, or Medical Genetics outpatient clinics between 2020 and 2025. All patients have an ascending aortic diameter between 4.0 and 5.0 cm on echocardiography or thoracoabdominal CT imaging and underwent genetic testing for syndromic or non-syndromic aortopathy panels. Patients with prior aortic surgery, known genetic syndromes, acute aortic events (rupture or dissection), or vasculitis were excluded.
Who may be able to join
- Aged 20-70 years
- Ascending aortic diameter between 4.0-5.0 cm
- Underwent genetic panel testing
- No prior aortic surgery
- No history of dissection or rupture
- No known vasculitis or genetic syndrome
Who cannot join
- Age <20 or >70
- Emergency surgical indication
- Active infection or metabolic instability
- No available genetic test results
Trial locations and contacts
1 site in 1 country.
Turkey (Türkiye)1 site
Samsun University Faculty of Medicine
Samsun, 55090
About this study
Official title: Genetic Risk Stratification in Ascending Aortic Dilatation Below Surgical Threshold: A Retrospective Single-Center Study
This retrospective study investigates the prevalence of genetic mutations in patients with ascending aortic dilatation measuring between 4.0 and 5.0 cm-below the standard surgical threshold. Using Next Generation Sequencing (NGS), both syndromic and non-syndromic aortopathy gene panels were analyzed in 102 patients who had no history of aortic surgery, dissection, or known genetic disorders. Findings will be compared with population data to better understand genetic risk profiles in borderline aortic dilatation, potentially supporting earlier interventions based on genetic markers. The study was approved by the Samsun University Non-Interventional Clinical Research Ethics Committee (GOKAEK, 2025/9/2).
Read the detailed description
This retrospective study aims to investigate the prevalence of syndromic and non-syndromic genetic mutations in patients with borderline ascending aortic dilatation (aortic diameter between 4.0-5.0 cm). The study cohort includes patients evaluated at Samsun Training and Research Hospital between 2020 and 2025 who underwent genetic testing using targeted Next Generation Sequencing (NGS) panels for aortopathy. The inclusion criteria focus on individuals aged 20-70 years without known connective tissue syndromes or aortic surgery history. The goal is to identify pathogenic or likely pathogenic variants in known aortopathy-associated genes and correlate these findings with patient-specific factors such as age, sex, and aortic measurements.The outcomes of this study may contribute to earlier identification and stratification of genetic risk in patients with aortic dilation below current surgical thresholds, potentially guiding future recommendations for genetic screening and elective surgical intervention.
- Keywords
- Non-Syndromic Aortopathy, Syndromic Aortopathy, Aortic Root Dilatation, Next Generation Sequencing (NGS), Borderline Aortic Diameter
- Medical subject headings
- Aortic Aneurysm, Thoracic, Aortic Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Aortic Dilatation Group | Patients with ascending aortic diameter between 4.0-5.0 cm Retrospectively analyzed for syndromic and non-syndromic genetic mutations using NGS | |
| Control Group | Population-based exome data from individuals without aortic disease Used for comparison of variant frequency and mutation prevalence |
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequency of Syndromic and Non-Syndromic Genetic Mutations
Assessment of the prevalence of genetic mutations associated with syndromic and non-syndromic aortopathies among patients with ascending aortic diameters between 4.0 and 5.0 cm.
Measured: 12 months (Proportion of patients with identified mutations from the genetic panel using NGS.)
Secondary outcomes (1)
Correlation Between Specific Genetic Mutations and Aortic Diameter
To assess whether certain mutations are associated with larger aortic diameters within the 4.0-5.0 cm range. Evaluation of associations between specific genetic variants and clinical variables such as age, sex, body mass index, and ascending aortic diameter.
Measured: 12 months (Statistical correlation coefficients and p-values for associations between variants and patient characteristics.)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Jun 2025
- Study start1 Jan 2024
- Primary completion1 Jan 2026 (estimated)
- Study completion1 Jan 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Ascending Aortic DilatationStudies 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
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 102 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Samsun University
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Özlem Sezer, Principal investigator, Samsun University Faculty of medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07034430
- Sponsor's protocol ID
- GOKAEK-2025/9/2
- Status last verified
- Jun 2025
- First submitted
- 14 Jun 2025
- Last updated
- 27 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 27 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Risk Stratification in Ascending Aortic Dilatation Below Surgical Threshold: A Retrospective Single-Center Study
- ClinicalTrials.gov ID
- NCT07034430
- Acronym / sponsor ID
- GOKAEK-2025/9/2
- Keywords
- Non-Syndromic Aortopathy, Syndromic Aortopathy, Aortic Root Dilatation, Next Generation Sequencing (NGS), Borderline Aortic Diameter
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 102 participants (estimated)
- Lead sponsor
- Samsun UniversityUniversity, hospital or other
- Study start
- 1 Jan 2024 (actual)
- Primary completion
- 1 Jan 2026 (estimated)
- Study completion
- 1 Jan 2026 (estimated)
- First posted
- 24 Jun 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.
This retrospective study investigates the prevalence of genetic mutations in patients with ascending aortic dilatation measuring between 4.0 and 5.0 cm-below the standard surgical threshold. Using Next Generation Sequencing (NGS), both syndromic and non-syndromic aortopathy gene panels were analyzed in 102 patients who had no history of aortic surgery, dissection, or known genetic disorders. Findings will be compared with population data to better understand genetic risk profiles in borderline aortic dilatation, potentially supporting earlier interventions based on genetic markers. The study was approved by the Samsun University Non-Interventional Clinical Research Ethics Committee (GOKAEK, 2025/9/2).
Detailed description
This retrospective study aims to investigate the prevalence of syndromic and non-syndromic genetic mutations in patients with borderline ascending aortic dilatation (aortic diameter between 4.0-5.0 cm). The study cohort includes patients evaluated at Samsun Training and Research Hospital between 2020 and 2025 who underwent genetic testing using targeted Next Generation Sequencing (NGS) panels for aortopathy. The inclusion criteria focus on individuals aged 20-70 years without known connective tissue syndromes or aortic surgery history. The goal is to identify pathogenic or likely pathogenic variants in known aortopathy-associated genes and correlate these findings with patient-specific factors such as age, sex, and aortic measurements.The outcomes of this study may contribute to earlier identification and stratification of genetic risk in patients with aortic dilation below current surgical thresholds, potentially guiding future recommendations for genetic screening and elective surgical intervention.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Aortic Dilatation Group | – | –Patients with ascending aortic diameter between 4.0-5.0 cm Retrospectively analyzed for syndromic and non-syndromic genetic mutations using NGS |
| Control Group | – | –Population-based exome data from individuals without aortic disease Used for comparison of variant frequency and mutation prevalence |
Who may qualify
- Ages
- 20 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- This study includes adult patients aged 20 to 70 years who were evaluated at the Samsun Training and Research Hospital's Cardiovascular Surgery, Cardiology, or Medical Genetics outpatient clinics between 2020 and 2025. All patients have an ascending aortic diameter between 4.0 and 5.0 cm on echocardiography or thoracoabdominal CT imaging and underwent genetic testing for syndromic or non-syndromic aortopathy panels. Patients with prior aortic surgery, known genetic syndromes, acute aortic events (rupture or dissection), or vasculitis were excluded.
Key inclusion criteria (6 listed)
- Aged 20-70 years
- Ascending aortic diameter between 4.0-5.0 cm
- Underwent genetic panel testing
- No prior aortic surgery
- No history of dissection or rupture
Key exclusion criteria (4 listed)
- Age <20 or >70
- Emergency surgical indication
- Active infection or metabolic instability
- No available genetic test results
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Frequency of Syndromic and Non-Syndromic Genetic Mutations
Time frame: 12 months (Proportion of patients with identified mutations from the genetic panel using NGS.)
Assessment of the prevalence of genetic mutations associated with syndromic and non-syndromic aortopathies among patients with ascending aortic diameters between 4.0 and 5.0 cm.
1 secondary outcome
Correlation Between Specific Genetic Mutations and Aortic Diameter
Time frame: 12 months (Statistical correlation coefficients and p-values for associations between variants and patient characteristics.)
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 27 Jun 2025.
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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.
Özlem Sezer principal investigator
Samsun University Faculty of medicine
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 Ascending Aortic Dilatation and Aortic Aneurysm, Thoracic, run by Samsun University at 1 site in Turkey (Türkiye).
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 6 inclusion and 4 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 27 Jun 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 Turkey (Türkiye). 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?
Frequency of Syndromic and Non-Syndromic Genetic Mutations (time frame: 12 months (Proportion of patients with identified mutations from the genetic panel using NGS.)). 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 27 Jun 2025.