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

NCT ID: NCT04772963

Last Updated: 2026-01-22

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2022-02-17
• Study Completion Date: 2027-03-31

Brief 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.

Detailed Description

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.

Conditions

Arteriovenous Malformations

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Interventions

blood sample

During the arteriography a peripheral venous sampling

Intervention Type: GENETIC

Eligibility Criteria

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

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Fondation Ophtalmologique Adolphe de Rothschild

NETWORK

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Stanislas Smajda, MD

Role: PRINCIPAL_INVESTIGATOR

Fondation Ophtalmologique Adolphe de Rothschild

Locations

HOPITAL FONDATION Adolphe de ROTHSCHILD

Paris, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Stanislas Smajda, MD

Role: CONTACT

ssmajda@for.paris

0148036454

Amélie Yavchitz, MD

Role: CONTACT

ayavchitz@for.paris

0148036454

Facility Contacts

Stanislas SMAJDA, DR

Role: primary

ssmajda@for.paris

Other Identifiers

SSA_2021_3

Identifier Type: -

Identifier Source: org_study_id