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

Condition(s) studied

Investigational drug(s) / intervention(s)

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).

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.

Eligibility

Primary outcome measure(s)

• Evaluate genetic mutations identified by liquid biopsies on the drainage vein of AVMs. — Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate
  determination of each mutation identified in the drainage vein of AVMs,
• Assessment of the prevalence of each mutation identified by liquid biopsies on the drainage vein of AVMs — Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate
  Evaluation of the prevalence of each mutation identified in the drainage vein of AVMs, with calculation of the exact 95% confidence interval.

Trial sites (3)

More University Hospital, Rouen trials in France

Other trials for the same condition