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

Fondation Ophtalmologique Adolphe de Rothschild (Other)
Overall Status
Recruiting ID

Study Details

Study Description

Brief Summary

Cerebral and medullary arteriovenous malformations (AVMs) are morphologically abnormal vessels located on the surface or in the cerebral or medullary parenchyma. These vascular lesions cause the arterial and venous networks to communicate pathologically, creating an arteriovenous shunt.The prevalence of cerebral Cerebral and medullary AVMs in general population is difficult to establish given the rarity of the condition. However, it is estimated at around 1 per 10,000 inhabitants (0.01%). About 15-20% of the cerebral vascular accidents are asymptomatic at the time of diagnosis. The occurrence of intracranial haemorrhage is the most important prognostic factor because it is associated with a significant morbidity and mortality. The management of an AVM is usually carried out in a multidisciplinary way, combining interventional neuroradiology, neurosurgery and vascular neurology.

The genetic, molecular and cellular mechanisms that cause vascular malformations of the central nervous system are partially known. Several recent research works highlight mutations in the RAS-MAPK or MAPK-ERK signalling pathway in AVMs. In cases of cerebral AVMs considered to be sporadic, a somatic KRAS/BRAF mutation has recently been demonstrated in tissue samples of operated AVMs.

Except in the case of Hereditary Haemorrhagic Telangiectasia (HHT or Rendu-Osler-Weber syndrome), the influence of genetic damage on the prognosis of AVM is poorly known. It is also interesting to note that genetic screening is not routinely performed in patients with cerebro-medullary AVMs and that therefore the prevalence of these clinical entities in patients with AVMs is not known.

Condition or Disease Intervention/Treatment Phase
  • Genetic: blood sample

Study Design

Study Type:
Anticipated Enrollment :
300 participants
Observational Model:
Time Perspective:
Official Title:
Genetics of Central Nervous System Arteriovenous Malformations (AVM): Genotype-Phenotype Correlation and Prognostic Impact on Patients With AVM
Actual Study Start Date :
Feb 17, 2022
Anticipated Primary Completion Date :
Oct 1, 2024
Anticipated Study Completion Date :
Oct 1, 2026

Outcome Measures

Primary Outcome Measures

  1. Genetic mutation [limit of 12 month]

Eligibility Criteria


Ages Eligible for Study:
N/A and Older
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Inclusion Criteria:
  • Patient with a vascular malformation of the cerebral or medullary identified on diagnostic imaging (angio-CT, angio-MRI or diagnostic angiography) for which clinical monitoring alone or intervention (endovascular treatment, surgery or radiosurgery) is planned in the centres participating in the research.
Exclusion Criteria:
  • Pregnant, parturient or breastfeeding woman

Contacts and Locations


Site City State Country Postal Code
1 HOPITAL FONDATION Adolphe de ROTHSCHILD Paris France 75019

Sponsors and Collaborators

  • Fondation Ophtalmologique Adolphe de Rothschild


None specified.

Study Documents (Full-Text)

None provided.

More Information


None provided.
Responsible Party:
Fondation Ophtalmologique Adolphe de Rothschild Identifier:
Other Study ID Numbers:
  • SSA_2021_3
First Posted:
Feb 26, 2021
Last Update Posted:
Mar 7, 2022
Last Verified:
Feb 1, 2022
Studies a U.S. FDA-regulated Drug Product:
Studies a U.S. FDA-regulated Device Product:
Additional relevant MeSH terms:

Study Results

No Results Posted as of Mar 7, 2022