RecruitingNCT04772963

Genetics of Central Nervous System Arteriovenous Malformations (GENE-MAV)

Genetics of Central Nervous System Arteriovenous Malformations (AVM): Genotype-Phenotype Correlation and Prognostic Impact on Patients With AVM


Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Enrollment

300 participants

Start Date

Feb 17, 2022

Study Type

OBSERVATIONAL

Conditions

Summary

Cerebral and medullary arteriovenous malformations (AVMs) lead to arterial and venous networks to communicate pathologically, creating an arteriovenous shunt. The occurrence of intracranial haemorrhage is the most important prognostic factor of AVMs because it is associated with a significant morbidity and mortality. The genetic, molecular and cellular mechanisms that cause vascular malformations of the central nervous system are partially known and the influence of genetic damage on the prognosis of AVMs is poorly known.


Eligibility

Plain Language Summary

Simplified for easier understanding

This study, GENE-MAV, is investigating the genetic causes of brain and spinal arteriovenous malformations (AVMs) — abnormal tangles of blood vessels in the brain or spinal cord that can rupture and cause stroke or hemorrhage. While it is known that some AVMs run in families and have genetic causes, many cases are sporadic and the underlying genes are not fully understood. Identifying these genetic factors could improve risk prediction, screening of family members, and eventually lead to new treatment targets. Participants are people with a confirmed AVM who are already being monitored or treated at participating medical centers in France. There are no age restrictions — any patient (including children, with guardian consent) with a vascular malformation identified on brain or spine imaging may participate. You may be eligible if... - You have a vascular malformation of the brain or spinal cord confirmed on imaging (CT angiography, MRI angiography, or diagnostic angiography) - You are scheduled for clinical monitoring alone, or for treatment (endovascular, surgical, or radiosurgery) - You are treated at a participating center You may NOT be eligible if... - You are pregnant, recently gave birth (parturient), or are breastfeeding Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

GENETICblood sample

During the arteriography a peripheral venous sampling


Locations(1)

HOPITAL FONDATION Adolphe de ROTHSCHILD

Paris, France

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NCT04772963


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