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

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. 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?
2. Which are the clinical characteristics of each single genetic variant identified?
3. Which are the clinical, radiological, laboratory variables associated with the finding of a pathogenic variant?
4. 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?
5. 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?
6. 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.

Conditions

• Dissection Carotid Artery
• Dissection Arterial
• Dissecting Aneurysm

Interventions

DIAGNOSTIC_TEST

Genetic testing

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

Sponsors & Collaborators

• Fondazione Mondino

  collaborator OTHER

• University of Rome Tor Vergata

  collaborator OTHER

• Azienda Policlinico Umberto I

  collaborator OTHER

• San Camillo Hospital, Rome

  collaborator OTHER

• I.R.C.C.S. Fondazione Santa Lucia

  collaborator OTHER

• Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

  collaborator OTHER

• Ospedale Policlinico San Martino

  collaborator OTHER

• Istituto Neurologico Mediterraneo Neuromed S. R. L

  collaborator OTHER

• IRCCS Istituto delle Scienze Neurologiche di Bologna

  collaborator OTHER

• Ospedale Guzzardi di Vittoria

  collaborator UNKNOWN

• Santo Spirito Hospital, Italy

  collaborator OTHER

• Azienda Ospedaliera di Rilievo Nazionale A.Cardarelli

  collaborator OTHER

• Istituto Clinico Humanitas

  collaborator OTHER

• Ospedale V. Fazzi

  collaborator OTHER

• Fondazione Policlinico Universitario Agostino Gemelli IRCCS

  lead OTHER

Study Design

Allocation

NA

Purpose

DIAGNOSTIC

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2024-12-01

Primary Completion

2030-12-01

Completion

2030-12-01

Countries

• Italy

Study Locations