Genetic analysis of patients with cervical artery dissections
Next Generation Sequencing (NGS) Analysis of Patients with Spontaneous Dissection of Cervical Arteries (sCeAD), a Multi-centric, Interventional, Cohort Study
This study is testing if certain genetic factors are linked to cervical artery dissections in adults and how these factors might affect their risk of having another dissection.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 145 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondazione Policlinico Universitario Agostino Gemelli IRCCS Academic / other |
| Locations | 1 site (Rome, Lazio) |
| Trial ID | NCT06862063 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the genetic predisposition in patients suffering from spontaneous dissections of the cervical arteries. It will analyze the prevalence of pathogenic variants in genes related to connective tissue structure and function among adult patients. The study will also explore the clinical characteristics associated with these genetic variants and assess the differences in recurrence risk between patients with and without such variants. Genetic testing will be the primary intervention to gather necessary data.
Who should consider this trial
Good fit: Ideal candidates for this study are adults aged 18 and older who have been diagnosed with a dissection of one or more cervical arteries.
Not a fit: Patients without cervical artery dissections or those under 18 years old may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of cervical artery dissections, potentially reducing recurrence rates.
How similar studies have performed: While genetic analysis in vascular conditions is an emerging field, this specific approach to cervical artery dissections is relatively novel and has not been extensively tested in prior studies.
Eligibility criteria
Show full inclusion / exclusion criteria
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:
* 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
Exclusion Criteria:
* 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.
Where this trial is running
Rome, Lazio
- Fondazione Policlinico Universitario A. Gemelli IRCCS — Rome, Lazio, Italy (Recruiting)
Study contacts
- Study coordinator: Giovanni Frisullo, MD, PhD
- Email: giovanni.frisullo@policlinicogemmelli.it
- Phone: +390630156321
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.