Genetic analysis of patients with cervical artery dissections

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.