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| Name | Class |
|---|---|
| IRCCS National Neurological Institute "C. Mondino" Foundation | OTHER |
| University of Rome Tor Vergata | OTHER |
| Azienda Policlinico Umberto I | OTHER |
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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:
Participants will be asked to undergo:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Adult patients with spontaneous dissections of the Cervical arteries | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genetic testing | Diagnostic Test | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| 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 | Through study completion, an average of 2 years and six months |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
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Inclusion Criteria:
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:
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
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Giovanni Frisullo, MD, PhD | Contact | +390630156321 | giovanni.frisullo@policlinicogemmelli.it | |
| Irene Scala, MD | Contact | +390630156321 | irene.scala@guest.policlinicogemelli.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Fondazione Policlinico Universitario A. Gemelli IRCCS | Recruiting | Rome | Lazio | 00168 | Italy |
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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| ID | Term |
|---|---|
| D000784 | Aortic Dissection |
| ID | Term |
|---|---|
| D000094665 | Dissection, Blood Vessel |
| D000783 | Aneurysm |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
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| ID | Term |
|---|---|
| D005820 | Genetic Testing |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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| San Camillo Hospital, Rome |
| OTHER |
| I.R.C.C.S. Fondazione Santa Lucia | OTHER |
| Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta | OTHER |
| Ospedale Policlinico San Martino | OTHER |
| Istituto Neurologico Mediterraneo Neuromed S. R. L | OTHER |
| IRCCS Istituto delle Scienze Neurologiche di Bologna | OTHER |
| Ospedale Guzzardi di Vittoria | UNKNOWN |
| Santo Spirito Hospital, Italy | OTHER |
| Azienda Ospedaliera di Rilievo Nazionale A.Cardarelli | OTHER |
| Istituto Clinico Humanitas | OTHER |
| Ospedale V. Fazzi | OTHER |
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|
| 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. | 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 | 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; | Through study completion, an average of 2 years and six months |
| D000094683 |
| Acute Aortic Syndrome |
| D001018 | Aortic Diseases |
| D005821 | Genetic Techniques |
| D033142 | Genetic Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |