Study on Genetic Causes and Prognosis of Brain and Spinal Arteriovenous Malformations AVMs

What this Trial Is About

Cerebral and medullary arteriovenous malformations AVMs are abnormal blood vessels in the brain or spinal cord that cause arteries and veins to connect improperly, creating a shunt. These AVMs can lead to serious health problems, especially if they cause bleeding in the brain, which is linked to high risks of disability and death. The genetic and cellular reasons for these malformations are only partially understood, and how genetic changes affect the outlook for patients with AVMs is not well known. This observational study collects blood samples during routine arteriography to analyze genetic mutations in patients with cerebral or medullary AVMs. Participants may be managed through clinical monitoring or treatments like endovascular therapy, surgery, or radiosurgery at participating centers. The study focuses on understanding the relationship between genetic factors and AVM characteristics without altering the usual care. Participants will undergo genetic testing using blood samples taken during their scheduled arteriography. Researchers will review genetic mutations within 12 months, aiming to correlate genetic findings with patient outcomes. The study involves no extra interventions beyond standard clinical procedures, and participants will be followed according to their planned medical care. This research is led by Fondation Ophtalmologique Adolphe de Rothschild and will continue until March 2027.

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