Next Generation Sequencing Analysis of Patients with Spontaneous Dissection of Cervical Arteries

NCT06862063 | Recruiting

• 1 other identifier: 6813
• Study Type: interventional
• Target: 145
• Locations: 1 country
• Sites: 1

Brief 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:

• a whole-CT total-body with contrast;
• a dysmorphological visit;
• a blood sampling for genetic testing;
• a neurological visit;
• Some follow-up visits.

Conditions

Dissection Carotid Artery; Dissection Arterial; Dissecting Aneurysm

Outcome Measures

Primary Outcomes (1)

• 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

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

  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

  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

  Through study completion, an average of 2 years and six months

• Definition of the prevalence of pathogenic variants in other genes

  Through study completion, an average of 2 years and six months

Study Arms (1)

Adult patients with spontaneous dissections of the Cervical arteries

EXPERIMENTAL

Diagnostic Test: Genetic testing

Interventions

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

Also known as: Next generation sequencing analysis of an extended panel of genes

Adult patients with spontaneous dissections of the Cervical arteries

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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;
• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS: lead
• Fondazione Mondino: collaborator
• University of Rome Tor Vergata: collaborator
• Azienda Policlinico Umberto I: collaborator
• San Camillo Hospital, Rome: collaborator
• I.R.C.C.S. Fondazione Santa Lucia: collaborator
• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta: collaborator
• Ospedale Policlinico San Martino: collaborator
• Istituto Neurologico Mediterraneo Neuromed S. R. L: collaborator
• IRCCS Istituto delle Scienze Neurologiche di Bologna: collaborator
• Ospedale Guzzardi di Vittoria: collaborator
• Santo Spirito Hospital, Italy: collaborator
• Azienda Ospedaliera di Rilievo Nazionale A.Cardarelli: collaborator
• Istituto Clinico Humanitas: collaborator
• Ospedale V. Fazzi: collaborator

Study Sites (1)

Fondazione Policlinico Universitario A. Gemelli IRCCS

Rome, Lazio, 00168, Italy

RECRUITING

MeSH Terms

Conditions

Aortic Dissection

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Dissection, Blood Vessel; Aneurysm; Vascular Diseases; Cardiovascular Diseases; Acute Aortic Syndrome; Aortic Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Techniques; Genetic Services; Health Services; Health Care Facilities Workforce and Services; Diagnostic Services; Preventive Health Services

Central Study Contacts

Giovanni Frisullo, MD, PhD

CONTACT

+390630156321; giovanni.frisullo@policlinicogemmelli.it

Irene Scala, MD

CONTACT

+390630156321; irene.scala@guest.policlinicogemelli.it

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: November 14, 2024
• First Posted: March 6, 2025
• Study Start: December 1, 2024
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 1, 2030
• Last Updated: March 6, 2025

Record last verified: 2024-11

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)