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Next Generation Sequencing Analysis of Patients with Spontaneous Dissection of Cervical Arteries
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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.
Official title: Next Generation Sequencing (NGS) Analysis of Patients with Spontaneous Dissection of Cervical Arteries (sCeAD), a Multi-centric, Interventional, Cohort Study
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
INTERVENTIONAL
Enrollment
145
Start Date
2024-12-01
Completion Date
2030-12-01
Last Updated
2025-03-06
Healthy Volunteers
No
Interventions
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
Locations (1)
Fondazione Policlinico Universitario A. Gemelli IRCCS
Rome, Lazio, Italy