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Blood test may unmask hidden genetic drivers of brain vessel malformations

NCT ID NCT06494358

Diagnosis Sponsor: Assistance Publique - Hôpitaux de Paris Source: ClinicalTrials.gov ↗

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Aug 31, 2026 · Last updated Sep 01, 2026 · Updated 1 time

Summary

Brain arteriovenous malformations (bAVMs) are tangles of abnormal blood vessels that can rupture and cause bleeding in the brain. Researchers have found that these malformations often carry specific genetic mutations, but detecting them currently requires analyzing tissue removed during surgery. This study tests whether a simple blood sample, called a liquid biopsy, can detect the same mutations in 50 adults scheduled for surgery to treat a bAVM. The researchers will compare mutations found in blood drawn from an artery near the malformation and from a peripheral vein against those found in the surgical specimen. If the blood test proves accurate, it could lead to non-invasive diagnosis and targeted drug treatments for bAVMs.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

Active substance
liquid biopsy (blood test for circulating DNA)
What this could lead to
If it works, a simple blood test could identify the genetic changes driving brain arteriovenous malformations, opening the door to non-invasive targeted treatments.
What could go wrong
This is a small, early diagnostic study. The blood test may not reliably detect mutations that are only present in the malformed vessels, and the results may not apply to all patients.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 50 people

The number the study aims to enrol. It can still change while the study runs.

Started

Apr 2025

Expected to finish

Dec 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

The population consists of patients aged 18 years or older with a bAVM, for whom treatment by microsurgery with preoperative embolization at Pitié-Salpêtrière Hospital was decided upon in a multidisciplinary consultation meeting.

Ages

18 years and older

Sex

Anyone

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

"\_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)

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Conditions

The condition(s) this trial relates to.

arteriovenous malformations of the brain cerebral arterial disease intracranial arterial disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Brain arterial disease

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Unité de neuroradiologie interventionnelle, hôpital Pitié-Salpêtrière

    RECRUITING

    Paris, 75571, France

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