NCT06862063

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

Next Generation Sequencing (NGS) Analysis of Patients with Spontaneous Dissection of Cervical Arteries (sCeAD), a Multi-centric, Interventional, Cohort Study

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 145 (estimated)
• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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

Type	Name	Description
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

Timeline

• Start date: 2024-12-01
• Primary completion: 2030-12-01
• Completion: 2030-12-01
• First posted: 2025-03-06
• Last updated: 2025-03-06

Locations

1 site across 1 country: Italy