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Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations.

NCT07103304 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 16

Last updated 2025-09-08

No results posted yet for this study

Summary

Cerebral arteriovenous malformations (CAVMs) are abnormal vessels located on the surface of the brain or within the cerebral parenchyma, causing abnormal communication between the arterial and venous networks, without the interposition of the capillary bed. The main risk associated with these malformations is rupture, which causes intracranial bleeding and can lead to serious sequelae or even death. CAVMs (except those of clearly identified genetic origin \[\< 5%\], such as mutations associated with Rendu-Osler disease) have long been considered to be of non-genetic origin.

However, somatic genetic mutations that activate the RAS/RAF/MEK/ERK (MAPK) signalling pathway have recently been identified in surgical specimens of cAVMs. Furthermore, targeted inhibition of this pathway is effective in treating these malformations in animals and appears to be effective in extracranial arteriovenous malformations, particularly superficial ones.

Conditions

  • Cerebral Arteriovenous Malformations

Interventions

OTHER

Search for activating somatic genetic mutations

This research aims to evaluate the genetic mutations identified by liquid biopsies on the drainage vein of AVMs, and the prevalence of each mutation. These liquid biopsies will be performed during the embolisation procedure by sampling the drainage vein of the malformation and peripheral venous blood (no additional procedures compared to standard care).

Sponsors & Collaborators

  • University Hospital, Rouen

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-09-01
Primary Completion
2028-01-02
Completion
2028-04-01

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07103304 on ClinicalTrials.gov