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

NCT07103304 | Not Yet Recruiting

• 2 other identifiers: 2023/0310/OBN° IDRCB : 2025-A00757-42
• Study Type: observational
• Target: 16
• Locations: 1 country
• Sites: 3

Brief 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

Keywords

embolisation; Search for activating somatic genetic mutations

Outcome Measures

Primary Outcomes (2)

• Evaluate genetic mutations identified by liquid biopsies on the drainage vein of AVMs.

  determination of each mutation identified in the drainage vein of AVMs,

  Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate

• Assessment of the prevalence of each mutation identified by liquid biopsies on the drainage vein of AVMs

  Evaluation of the prevalence of each mutation identified in the drainage vein of AVMs, with calculation of the exact 95% confidence interval.

  Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate

Secondary Outcomes (3)

• Evaluation of the imaging characteristics of cAVMs for each of the mutations identified.

  Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate

• Evaluate genetic mutations identified by liquid biopsies on the peripheral vein of AVMs.

  Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate

• Assessment of the prevalence of each mutation identified by liquid biopsies on the peripheral vein of AVMs

  Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate

Interventions

Search for activating somatic genetic mutations OTHER

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).

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

The population consists of patients aged 18 years or older with cAVMs, for whom treatment by venous embolisation was recommended during a multidisciplinary consultation meeting.

You may qualify if:

• Age ≥ 18 years
• Treated for cAVM
• Indication for embolisation treatment decided upon during a multidisciplinary team meeting (MDT)
• Venous embolisation, with or without arterial embolisation
• Patients informed about the study and willing to participate

You may not qualify if:

• Extra-cerebral arteriovenous malformations
• Under legal protection measures (guardianship/curatorship, etc.)
• Pregnancy
• Not eligible for intravenous treatment

Sponsors & Collaborators

• University Hospital, Rouen: lead

Study Sites (3)

University Hospital of Caen

Caen, 14033, France

Location

Hôpital la Pitié-Salpêtrière

Paris, 75013, France

Location

University Hospital of Rouen

Rouen, 76031, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Whole blood drawn from a peripheral vein at the start and end of embolisation via the venous catheter used by the anaesthesia team as part of routine care for Research into somatic genetic mutations that activate the RAS/RAF/MEK/ERK (MAPK) signalling pathway in cAVMs

MeSH Terms

Conditions

Intracranial Arteriovenous Malformations

Condition Hierarchy (Ancestors)

Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Central Nervous System Vascular Malformations; Nervous System Malformations; Arteriovenous Malformations; Vascular Malformations; Cardiovascular Abnormalities; Cardiovascular Diseases; Vascular Diseases; Intracranial Arterial Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Julien JB BUREL, Doctor

CONTACT

02 32 88 88 50; Julien.Burel@chu-rouen.fr

Vincent VF FERRANTI, ARC

CONTACT

02 32 88 82 65; Vincent.Ferranti@chu-rouen.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Months
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 23, 2025
• First Posted: August 5, 2025
• Study Start: September 1, 2025
• Primary Completion (Estimated): January 2, 2028
• Study Completion (Estimated): April 1, 2028
• Last Updated: September 8, 2025

Record last verified: 2025-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (3)