Using liquid biopsies to detect mutations in brain arteriovenous malformations

Liquid Biopsies for the Detection of Somatic Mutations in Brain Arteriovenous Malformations

Observational Assistance Publique - Hôpitaux de Paris · NCT06494358

This study is testing if a simple blood test can help find genetic changes in people with brain arteriovenous malformations to better understand their condition and improve treatment options.

Quick facts

Study typeObservational
Enrollment50 (estimated)
Ages18 Years and up
SexAll
SponsorAssistance Publique - Hôpitaux de Paris Academic / other
Locations1 site (Paris)
Trial IDNCT06494358 on ClinicalTrials.gov

What this trial studies

This observational study focuses on the use of liquid biopsies to identify somatic mutations in patients with brain arteriovenous malformations (bAVMs). It aims to explore the genetic underpinnings of bAVMs, which have traditionally been considered non-genetic, by analyzing circulating DNA. The study will involve patients treated at Pitié-Salpêtrière Hospital who are undergoing embolization followed by surgery. By utilizing next-generation sequencing, the research seeks to provide a non-invasive method for studying these mutations and potentially guiding treatment strategies.

Who should consider this trial

Good fit: Ideal candidates for this study are adults aged 18 and older who are being treated for bAVMs at Pitié-Salpêtrière Hospital and are indicated for embolization followed by surgery.

Not a fit: Patients with extra-cerebral arteriovenous malformations, those under legal protection, pregnant individuals, or those not eligible for combined treatment will not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could lead to more personalized treatment options for patients with bAVMs, improving outcomes and reducing risks associated with these malformations.

How similar studies have performed: While the use of liquid biopsies is a relatively novel approach in this context, there is emerging evidence supporting its effectiveness in other vascular conditions.

Eligibility criteria

Show full inclusion / exclusion criteria
"\_Age ≥ 18 years

* Treated for bAVM at Pitié-Salpêtrière Hospital
* Indication for treatment by embolization followed by surgery decided in a multidisciplinary consultation meeting (RCP) at Pitié-Salpêtrière Hospital
* Treatment by embolization possibly followed by surgery within 24-48 hours if the embolization is incomplete
* Informed about the study and not objecting to participation"

Exclusion criteria :

* Extra-cerebral arteriovenous malformations
* Under legal protection (guardianship/curators, etc.)
* Pregnancy
* Not eligible for combined treatment (embolization followed by surgery)

Where this trial is running

Paris

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Brain Arterial Diseasebrain arteriovenous malformationliquid biopsies
Last reviewed 2026-06-15 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.