Cerebral Arteriovenous MalformationsBioMAV2NCT07103304
Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations.
An observational study of Cerebral Arteriovenous Malformations, run by University Hospital, Rouen at 3 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Cerebral Arteriovenous Malformations
- What is being tested?
- Search for activating somatic genetic mutations
- How many people
- 16 participants
- Where
- 3 sitesFrance
- Study dates
- 1 Sep 2025to 1 Apr 2028
- How long will I take part?
- 3 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Extra-cerebral arteriovenous malformations
- Under legal protection measures (guardianship/curatorship, etc.)
- Pregnancy
- Not eligible for intravenous treatment
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
France3 sites
University Hospital of Caen
Caen, 14033
Charlotte CB BARBIER, Doctor, 02 31 06 46 97 ext. +33, barbier-ch@chu-caen.fr
Hôpital la Pitié-Salpêtrière
Paris, 75013
Frederic FC CLARENCON, Professor, 01 42 16 55 45 ext. +33, frederic.clarencon@aphp.fr
University Hospital of Rouen
Rouen, 76031
Julien JB BUREL, Doctor, 02 32 88 88 50 ext. +33, Julien.Burel@chu-rouen.fr
About this study
Official title: Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations. Contribution of Sampling From the Drainage Vein of the Malformation.
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.
Read the detailed description
Next-generation sequencing of circulating DNA in liquid biopsies is a promising new and minimally invasive approach for studying the presence of mutations in arteriovenous malformations.
The goal of treating a cAVM is to obliterate the malformation in order to prevent or avoid the risk of haemorrhage. Several therapeutic modalities may be used, which can be combined: microsurgery, endovascular embolisation, and/or radiosurgery. However, these are invasive treatments that are not without risk.
The detection of mutations by liquid biopsies would enable the development of targeted, non-invasive drug therapies against these cAVMs.
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.
This research focuses on identifying somatic genetic mutations that activate the RAS/RAF/MEK/ERK (MAPK) signalling pathway in cAVMs. These mutations have already been identified in surgical specimens. This research aims to evaluate the genetic mutations identified by liquid biopsies on the drainage vein of cAVMs and the prevalence of each mutation.
These liquid biopsies will be performed during embolisation surgery by sampling the drainage vein of the malformation and peripheral venous blood (no additional procedures compared to usual care).
- Conditions
- Cerebral Arteriovenous Malformations
- Being tested
- Search for activating somatic genetic mutations
- Keywords
- embolisation, Search for activating somatic genetic mutations
- Medical subject headings
- Intracranial Arteriovenous Malformations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Search for activating somatic genetic mutationsOther
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).
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate genetic mutations identified by liquid biopsies on the drainage vein of AVMs.
determination of each mutation identified in the drainage vein of AVMs,
Measured: 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.
Measured: 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.
Imaging characterisation of cAVMs for each of the mutations identified
Measured: 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.
determination of each mutation identified in the peripheral vein of AVMs
Measured: 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
Evaluation of the prevalence of each mutation identified in the peripheral vein of AVMs, with calculation of the exact 95% confidence interval.
Measured: Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Aug 2025
- Study start1 Sep 2025 (estimated)
- Primary completion2 Jan 2028 (estimated)
- Study completion1 Apr 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Cerebral Arteriovenous MalformationsStudies of the same condition, open and under way.
- More trials run by University Hospital, RouenThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 16 participants (estimated)
- Target duration
- 3 Months
Sponsor and investigators
- Lead sponsor
- University Hospital, Rouen
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07103304
- Sponsor's protocol ID
- 2023/0310/OB
- Other IDs
- N° IDRCB : 2025-A00757-42
- Acronym
- BioMAV2
- Status last verified
- Jun 2025
- First submitted
- 23 Jul 2025
- Last updated
- 8 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: The data provided will be the property of the sponsor and will be used solely for its own research activities.
Study at a glance
From the registry record, last updated by the sponsor on 8 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations. Contribution of Sampling From the Drainage Vein of the Malformation.
- ClinicalTrials.gov ID
- NCT07103304
- Acronym / sponsor ID
- BioMAV2 / 2023/0310/OB
- Conditions
- Cerebral Arteriovenous Malformations
- Keywords
- embolisation, Search for activating somatic genetic mutations
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 16 participants (estimated)
- Lead sponsor
- University Hospital, RouenUniversity, hospital or other
- Study start
- 1 Sep 2025 (estimated)
- Primary completion
- 2 Jan 2028 (estimated)
- Study completion
- 1 Apr 2028 (estimated)
- First posted
- 5 Aug 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Next-generation sequencing of circulating DNA in liquid biopsies is a promising new and minimally invasive approach for studying the presence of mutations in arteriovenous malformations.
The goal of treating a cAVM is to obliterate the malformation in order to prevent or avoid the risk of haemorrhage. Several therapeutic modalities may be used, which can be combined: microsurgery, endovascular embolisation, and/or radiosurgery. However, these are invasive treatments that are not without risk.
The detection of mutations by liquid biopsies would enable the development of targeted, non-invasive drug therapies against these cAVMs.
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.
This research focuses on identifying somatic genetic mutations that activate the RAS/RAF/MEK/ERK (MAPK) signalling pathway in cAVMs. These mutations have already been identified in surgical specimens. This research aims to evaluate the genetic mutations identified by liquid biopsies on the drainage vein of cAVMs and the prevalence of each mutation.
These liquid biopsies will be performed during embolisation surgery by sampling the drainage vein of the malformation and peripheral venous blood (no additional procedures compared to usual care).
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Months
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (4 listed)
- Extra-cerebral arteriovenous malformations
- Under legal protection measures (guardianship/curatorship, etc.)
- Pregnancy
- Not eligible for intravenous treatment
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Search for activating somatic genetic mutationsThis 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). | Other | – |
Primary outcome
Evaluate genetic mutations identified by liquid biopsies on the drainage vein of AVMs.
Time frame: 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
Time frame: 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.
3 secondary outcomes
Evaluation of the imaging characteristics of cAVMs for each of the mutations identified.
Time frame: 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.
Time frame: 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
Time frame: Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Sep 2025.
- Individual participant dataSharing planned: No. The data provided will be the property of the sponsor and will be used solely for its own research activities.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cerebral Arteriovenous Malformations, run by University Hospital, Rouen at 3 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 8 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Julien JB BUREL, Doctor (02 32 88 88 50 ext. +33, Julien.Burel@chu-rouen.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Evaluate genetic mutations identified by liquid biopsies on the drainage vein of AVMs. (time frame: Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Sep 2025.