Actively Recruiting
Genetics of Central Nervous System Arteriovenous Malformations: Genotype-Phenotype Correlation and Prognostic Impact
Led by Fondation Ophtalmologique Adolphe de Rothschild · Updated on 2026-01-22
300
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
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.
CONDITIONS
Brief Title
Genetics of Central Nervous System Arteriovenous Malformations (GENE-MAV)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patient with a vascular malformation of the cerebral or medullary identified on diagnostic imaging (angio-CT, angio-MRI or diagnostic angiography)
- Clinical monitoring alone or intervention (endovascular treatment, surgery or radiosurgery) is planned in the participating centers
You will not qualify if you...
- Pregnant, parturient or breastfeeding woman
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Varies based on individual diagnostic schedules
Participants undergo diagnostic imaging to identify vascular malformations in the brain or spinal cord.
1 to 3 visits depending on imaging required
Duration - Up to 12 months
Participants who undergo routine clinical monitoring or intervention for their vascular malformation are observed to collect genetic and clinical data.
Visits as scheduled during clinical monitoring or intervention
Trial Site Locations
Total: 1 location
1
HOPITAL FONDATION Adolphe de ROTHSCHILD
Paris, France, 75019
Actively Recruiting
Research Team
S
Stanislas Smajda, MD
A
Amélie Yavchitz, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here