Dissection Carotid ArteryNASCeADNCT06862063
Next Generation Sequencing Analysis of Patients with Spontaneous Dissection of Cervical Arteries
A study testing Genetic testing in people with Dissection Carotid Artery and Dissection Arterial, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial summary
The goal of this observational study is to analyze the existence of a genetic predisposition in patients with spontaneous dissections of the cervical arteries (SCeAD). The main questions it aims to answer are: 1. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Dissection Carotid Artery, Dissection Arterial, Dissecting Aneurysm
- What is being tested?
- Genetic testing
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 145 participants
- Where
- 1 siteItaly
- Study dates
- 1 Dec 2024to 1 Dec 2030
- Phase
- Interventional
- 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
Who may be able to join
- Adult age (≥18 years);
- Presence of a dissection of one or more cervical arteries (carotid or vertebrobasilar district), defined as the finding, on an appropriate radiological examination (CT and/or MRI of the neck and brain district with/without contrast medium and/or digital subtraction angiography and/or echocolordoppler of the epiaortic vessels) of "intramural hematoma, pseudoaneurysmal dilation, intimal flap, double lumen, long tapering stenosis or occlusion ≥2 cm above the carotid bifurcation with finding of an aneurysmal dilation or a long tapering stenosis after recanalization of the vessel";
- At least one or more of the following criteria:
- Radiological evidence on CT and/or MRI with/without contrast and/or digital subtraction angiography and/or color Doppler ultrasound of vessel wall anomalies (such as aneurysms, dissections, tortuosity, ectasia or vascular stenosis) in one or more vascular districts in addition to that of the known dissection;
- Family history of:
- vessel dissections and/or sudden death and/or cerebrovascular or cardiovascular diseases at a young age;
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- spontaneous perforation of internal organs and/or dehiscence and/or laxity of connective tissue (spontaneous prolapses);
- dysmorphological abnormalities at the clinical examination (including Beighton score ≥5 or Marfan score ≥7), laboratory and/or radiological findings suggestive of connective tissue disease or other genetic condition known to be associated with the development of aneurysms or alterations of the vessel wall;
- Written informed consent
Who cannot join
- Recent history of trauma clearly related in type, location and dynamics to the development of dissection;
- Iatrogenic dissection following endovascular procedure;
- Exclusively intracranial dissection;
- Fibromuscular dysplasia.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
Fondazione Policlinico Universitario A. Gemelli IRCCS
Rome, Lazio, 00168
Giovanni Frisullo, +390630156321
About this study
Official title: Next Generation Sequencing (NGS) Analysis of Patients with Spontaneous Dissection of Cervical Arteries (sCeAD), a Multi-centric, Interventional, Cohort Study
The goal of this observational study is to analyze the existence of a genetic predisposition in patients with spontaneous dissections of the cervical arteries (SCeAD).
The main questions it aims to answer are:
Read more
- Which is the prevalence of pathogenic variants in genes coding for proteins involved in the structure or function of the connective tissue in adult patients with spontaneous dissections of the cervical arteries?
- Which are the clinical characteristics of each single genetic variant identified?
- Which are the clinical, radiological, laboratory variables associated with the finding of a pathogenic variant?
- Are there differences between patients with SCeAD who have a pathogenic variant in a gene coding for proteins involved in the structure or function of the connective tissue and those who not?
- There are differences in the risk of SCeAD recurrence between patients with SCeAD who have a pathogenic variant in a gene coding for proteins involved in the structure or function of the connective tissue and those who not?
- There are differences in the risk of SCeAD recurrence based on the specific typology of genetic variant found?
Participants will be asked to undergo:
- a whole-CT total-body with contrast;
- a dysmorphological visit;
- a blood sampling for genetic testing;
- a neurological visit;
- Some follow-up visits.
- Being tested
- Genetic testing
- Medical subject headings
- Aortic Dissection
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic testingDiagnostic test
Also called Next generation sequencing analysis of an extended panel of genes
Each eligible patient will undergo a blood sample to perform a genetic analysis through Next Generation Sequencing (NGS) technique in order to analyze a high number of genes involved in the structure/function of connective tissue
| Study group | Role | What they receive |
|---|---|---|
| Adult patients with spontaneous dissections of the Cervical arteries | Experimental | Not described Receives: Diagnostic Test: Genetic testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Definition of the percentage prevalence (n - %) of pathogenic variants in patients with Spontaneous Cervical Artery Dissection (SCeAD)
To define the percentage prevalence (n - %) of pathogenic variants of genes encoding proteins involved in the structure/function of connective tissue in patients with spontaneous dissection of the cervical arteries
Measured: Through study completion, an average of 2 years and six months
Secondary outcomes (4)
Evaluation of the percentage prevalence (n - %) of each pathogenic variant in genes encoding connective tissue proteins in patients with spontaneous dissection of the cervical arteries
Description of the typology and percentage prevalence (n - %) of individual pathogenic variants of genes encoding proteins involved in the structure/function of connective tissue in patients with spontaneous dissections of the Cervical arteries
Measured: Through study completion, an average of 2 years and six months
Identification of clinical predictors of pathogenic variants in genes encoding connective tissue proteins in patients with spontaneous cervical artery dissection
Percentage prevalence (n - %) of clinical predictors of pathogenic variants in genes encoding proteins involved in the structure/function of connective tissue in patients with spontaneous dissection of the cervical arteries through multivariable regression models. In particular, clinical (eg. Beighton score, Marfan score, symptoms that lead to the finding of the dissection, etc), radiological (eg. the presence of vascular abnormalities in other vascular districts, the aspect of the cervical artery dissection at the US, CT, or MRI examination, etc.), and laboratory parameters (eg. hyperhomocisteinemia, immunological screening, CRP, etc.) will be compared between patients with spontaneous dissections of the cervical arteries who have a pthogenic variant of genes encoding for connective tissue proteins and those who not.
Measured: Through study completion, an average of 2 years and six months
Assessment of the risk of artery dissection recurrence in patients with spontaneous cervical artery dissection carrying a pathogenic variant in those without through the ODD ratio
Comparison of the risk of recurrence of vascular dissections in the cervical arteries or in other vascular districts in patients with spontaneous cervical artery dissection carrying a pathogenic variant in genes encoding proteins involved in connective tissue structure/function and in those without it by calculating the ODD ratio
Measured: Through study completion, an average of 2 years and six months
Definition of the prevalence of pathogenic variants in other genes
Percentage prevalence (n - %) of individual pathogenic variants of genes encoding proteins not involved in the structure/function of connective tissue in patients with spontaneous dissection of the cervical arteries and correlation of the same with individual clinical phenotypes;
Measured: Through study completion, an average of 2 years and six months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Mar 2025
- Study start1 Dec 2024
- Primary completion1 Dec 2030 (estimated)
- Study completion1 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Dissection Carotid ArteryStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 145 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Collaborators
- IRCCS National Neurological Institute "C. Mondino" Foundation, University of Rome Tor Vergata, Azienda Policlinico Umberto I, San Camillo Hospital, Rome, I.R.C.C.S. Fondazione Santa Lucia, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Ospedale Policlinico San Martino, Istituto Neurologico Mediterraneo Neuromed S. R. L, IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Guzzardi di Vittoria, Santo Spirito Hospital, Italy, Azienda Ospedaliera di Rilievo Nazionale A.Cardarelli, Istituto Clinico Humanitas, Ospedale V. Fazzi
- Responsible party
- Principal investigator, Frisullo Giovanni, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06862063
- Sponsor's protocol ID
- 6813
- Acronym
- NASCeAD
- Status last verified
- Nov 2024
- First submitted
- 14 Nov 2024
- Last updated
- 6 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: There are not plans to make IPD available to other researchers as we will be dealing with highly sensitive data, such as genetic data.
Study at a glance
From the registry record, last updated by the sponsor on 6 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Next Generation Sequencing (NGS) Analysis of Patients with Spontaneous Dissection of Cervical Arteries (sCeAD), a Multi-centric, Interventional, Cohort Study
- ClinicalTrials.gov ID
- NCT06862063
- Acronym / sponsor ID
- NASCeAD / 6813
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 145 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Collaborators
- IRCCS National Neurological Institute "C. Mondino" Foundation, University of Rome Tor Vergata, Azienda Policlinico Umberto I, San Camillo Hospital, Rome, I.R.C.C.S. Fondazione Santa Lucia, Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Ospedale Policlinico San Martino, Istituto Neurologico Mediterraneo Neuromed S. R. L, IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Guzzardi di Vittoria, Santo Spirito Hospital, Italy, Azienda Ospedaliera di Rilievo Nazionale A.Cardarelli, Istituto Clinico Humanitas, Ospedale V. Fazzi
- Study start
- 1 Dec 2024 (actual)
- Primary completion
- 1 Dec 2030 (estimated)
- Study completion
- 1 Dec 2030 (estimated)
- First posted
- 6 Mar 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 goal of this observational study is to analyze the existence of a genetic predisposition in patients with spontaneous dissections of the cervical arteries (SCeAD).
The main questions it aims to answer are:
- Which is the prevalence of pathogenic variants in genes coding for proteins involved in the structure or function of the connective tissue in adult patients with spontaneous dissections of the cervical arteries?
- Which are the clinical characteristics of each single genetic variant identified?
- Which are the clinical, radiological, laboratory variables associated with the finding of a pathogenic variant?
- Are there differences between patients with SCeAD who have a pathogenic variant in a gene coding for proteins involved in the structure or function of the connective tissue and those who not?
- There are differences in the risk of SCeAD recurrence between patients with SCeAD who have a pathogenic variant in a gene coding for proteins involved in the structure or function of the connective tissue and those who not?
- There are differences in the risk of SCeAD recurrence based on the specific typology of genetic variant found?
Participants will be asked to undergo:
- a whole-CT total-body with contrast;
- a dysmorphological visit;
- a blood sampling for genetic testing;
- a neurological visit;
- Some follow-up visits.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Adult patients with spontaneous dissections of the Cervical arteries | Experimental | Diagnostic Test: Genetic testing |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (9 listed)
- Adult age (≥18 years);
- Presence of a dissection of one or more cervical arteries (carotid or vertebrobasilar district), defined as the finding, on an appropriate radiological examination (CT and/or MRI of the neck and brain district with/without contrast medium and/or digital subtraction angiography and/or echocolordoppler of the epiaortic vessels) of "intramural hematoma, pseudoaneurysmal dilation, intimal flap, double lumen, long tapering stenosis or occlusion ≥2 cm above the carotid bifurcation with finding of an aneurysmal dilation or a long tapering stenosis after recanalization of the vessel";
- At least one or more of the following criteria:
- Written informed consent
Key exclusion criteria (4 listed)
- Recent history of trauma clearly related in type, location and dynamics to the development of dissection;
- Iatrogenic dissection following endovascular procedure;
- Exclusively intracranial dissection;
- Fibromuscular dysplasia.
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 |
|---|---|---|
| Genetic testingAlso: Next generation sequencing analysis of an extended panel of genesEach eligible patient will undergo a blood sample to perform a genetic analysis through Next Generation Sequencing (NGS) technique in order to analyze a high number of genes involved in the structure/function of connective tissue | Diagnostic test | Adult patients with spontaneous dissections of the Cervical arteries |
Primary outcome
Definition of the percentage prevalence (n - %) of pathogenic variants in patients with Spontaneous Cervical Artery Dissection (SCeAD)
Time frame: Through study completion, an average of 2 years and six months
To define the percentage prevalence (n - %) of pathogenic variants of genes encoding proteins involved in the structure/function of connective tissue in patients with spontaneous dissection of the cervical arteries
4 secondary outcomes
Evaluation of the percentage prevalence (n - %) of each pathogenic variant in genes encoding connective tissue proteins in patients with spontaneous dissection of the cervical arteries
Time frame: Through study completion, an average of 2 years and six months
Identification of clinical predictors of pathogenic variants in genes encoding connective tissue proteins in patients with spontaneous cervical artery dissection
Time frame: Through study completion, an average of 2 years and six months
Assessment of the risk of artery dissection recurrence in patients with spontaneous cervical artery dissection carrying a pathogenic variant in those without through the ODD ratio
Time frame: Through study completion, an average of 2 years and six months
Definition of the prevalence of pathogenic variants in other genes
Time frame: Through study completion, an average of 2 years and six 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 6 Mar 2025.
- Individual participant dataSharing planned: No. There are not plans to make IPD available to other researchers as we will be dealing with highly sensitive data, such as genetic data.
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Genetic testing in people with Dissection Carotid Artery and Dissection Arterial, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS 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 9 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: looking for participants now, as of the sponsor's last update on 6 Mar 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?
Contact Giovanni Frisullo, MD, PhD (+390630156321, giovanni.frisullo@policlinicogemmelli.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Definition of the percentage prevalence (n - %) of pathogenic variants in patients with Spontaneous Cervical Artery Dissection (SCeAD) (time frame: Through study completion, an average of 2 years and six months). 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 6 Mar 2025.