RecruitingOBSERVATIONAL

Liquid Biopsies for the Detection of Somatic Mutations in bAVMs

This study is investigating brain arteriovenous malformations (bAVMs), which are abnormal tangles of blood vessels in the brain. These can cause bleeding and serious health problems. Currently, treatment often involves invasive surgery or other procedures. We now know that some bAVMs are caused by specific genetic changes, called mutations. This research aims to find these mutations using simple blood tests, known as liquid biopsies. If these blood tests can accurately identify the mutations that are also found in surgical samples, it could open the door to developing new, less invasive treatments that target these specific genetic changes, making treatment safer and less risky for patients.

At a glance

Status

Recruiting

Sponsor

Assistance Publique - Hôpitaux de Paris

Enrolment target

Start

01 Apr 2025

Estimated completion

01 Dec 2026

Brain Arterial Disease

What is this study about?

Brain arteriovenous malformations (bAVMs) are unusual clusters of blood vessels in your brain. Normally, blood flows through arteries, then very small vessels called capillaries, and then veins. In bAVMs, the capillaries are missing, so blood flows directly from arteries to veins. This can put stress on the vessels, making them more likely to rupture and bleed inside your brain, which can be very serious or even life-threatening.

For a long time, doctors thought bAVMs weren't caused by genetic factors, except for a very small number of cases. However, recent discoveries have shown that certain genetic changes, called mutations, can be found in bAVMs. These mutations affect a specific pathway in your cells that helps control growth. The good news is that drugs targeting this pathway are already used for other conditions and have even shown promise in treating similar blood vessel problems elsewhere in the body.

Currently, treating bAVMs often involves surgery, blocking them with special glues (embolization), or using special radiation (radiosurgery). These treatments can be effective but are also complex and carry risks. This study wants to see if we can find these important genetic mutations using a simple blood test, called a liquid biopsy. If we can accurately detect these mutations in blood, it could lead to new, non-surgical treatments that specifically target these genetic changes, potentially making treatment much safer and easier for people with bAVMs.

Key takeaways

The study wants to find genetic changes in brain abnormal blood vessels (bAVMs).
It uses a new blood test called a 'liquid biopsy' instead of just surgical samples.
The goal is less invasive treatment options for bAVMs.
Participation involves giving blood samples during your planned bAVM treatment.
Your bAVM treatment plan will not change if you join the study.

Who may be eligible?

This study is looking for adults aged 18 or older who have a brain arteriovenous malformation (bAVM). You would need to be receiving treatment for your bAVM at the Pitié-Salpêtrière Hospital in Paris, specifically a treatment plan that includes embolization (a procedure to block off blood vessels) potentially followed by surgery.

You should be scheduled to have your embolization and possible surgery within a short timeframe (24-48 hours). It's important that you are fully informed about the study and agree to take part.

There are some reasons why you might not be able to join. For example, if your bAVM is outside of your brain, if you are pregnant, if you are under legal protection (like guardianship), or if your medical team decides that this combined treatment (embolization followed by surgery) isn't the right choice for you.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you 18 years old or older?
Are you being treated for a bAVM at Pitié-Salpêtrière Hospital?
Is your treatment plan set to include embolization followed by surgery for your bAVM?
Are you scheduled for embolization and possible surgery within 24-48 hours?
Are you not pregnant or under legal guardianship?

Answer every question to see your result.

What does participation involve?

The study involves collecting blood samples for a 'liquid biopsy' before you have your planned embolization and surgery for your bAVM. The main aim is to compare the results from these blood tests with samples taken during your bAVM surgery.

Your involvement will primarily be around the time of your scheduled treatment at Pitié-Salpêtrière Hospital. There are no extra hospital visits or special medications required specifically for this study. The researchers will simply be collecting samples and information related to your existing treatment plan. The total duration of your active participation, where samples are collected, will be focused around the time of your procedure.

Potential risks and benefits

Participating in this study might not offer a direct health benefit to you, as its primary goal is research. However, the information gathered could greatly help future patients with bAVMs by paving the way for less invasive and more targeted treatments. The risks involved are minimal; they mainly relate to the blood draws, which carry a small risk of bruising or discomfort. You are always in control of your participation and have the right to withdraw from the study at any time without affecting your medical care.

Locations (1)

Unité de neuroradiologie interventionnelle, hôpital Pitié-Salpêtrière
Verified postcode
Paris, France· Recruiting

Common questions

What is a bAVM?

A bAVM is an abnormal tangle of blood vessels in the brain where arteries connect directly to veins, missing the usual small capillaries. This can cause bleeding in the brain.

What is a 'liquid biopsy'?

A liquid biopsy is a blood test that can detect small pieces of genetic material from your bAVM circulating in your blood. It's a much less invasive way to check for genetic changes than surgery.

Why is this study important?

This study aims to discover if we can find specific genetic changes (mutations) in bAVMs using a simple blood test. If successful, it could lead to new, non-surgical treatments that are safer and more effective.

Will taking part change my bAVM treatment?

No, your participation in this study will not change the medical treatment plan for your bAVM. The study is collecting information and samples during your already planned procedures.

Is there a chance this study won't find anything useful?

Like all research, there's a possibility that the study might not find the genetic changes or that the blood tests aren't accurate enough. However, every finding, even negative ones, helps us learn more.

How to find out more

Frederic Clarençon, MD,PhD

frederic.clarencon@aphp.fr 0033 1 42 16 35 99 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.