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

Arteriovenous Malformations Clinical Trial

— GENE-MAV  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04772963
• Other study ID #: SSA_2021_3
• Status: Recruiting
• Start date: February 17, 2022
• Est. completion date: October 2026

Study information

• Verified date: July 2023
• Source: Fondation Ophtalmologique Adolphe de Rothschild
• Contact: Stanislas Smajda
• Phone: 0148036454
• Email: ssmajda[@]for.paris
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: October 2026
• Est. primary completion date: October 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Arteriovenous Malformations
• Congenital Abnormalities
• Hemangioma

Intervention

Genetic:
• blood sample
During the arteriography a peripheral venous sampling

Locations

Country	Name	City	State
France	HOPITAL FONDATION Adolphe de ROTHSCHILD	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Fondation Ophtalmologique Adolphe de Rothschild

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genetic mutation		limit of 12 month