Ignite Creation Date:
2025-12-24 @ 8:03 PM
Ignite Modification Date:
2026-01-27 @ 4:22 AM
Study NCT ID:
NCT07103304
Status:
NOT_YET_RECRUITING
Last Update Posted:
2025-09-08
First Post:
2025-07-23
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations.
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D002538', 'term': 'Intracranial Arteriovenous Malformations'}], 'ancestors': [{'id': 'D002561', 'term': 'Cerebrovascular Disorders'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D020785', 'term': 'Central Nervous System Vascular Malformations'}, {'id': 'D009421', 'term': 'Nervous System Malformations'}, {'id': 'D001165', 'term': 'Arteriovenous Malformations'}, {'id': 'D054079', 'term': 'Vascular Malformations'}, {'id': 'D018376', 'term': 'Cardiovascular Abnormalities'}, {'id': 'D002318', 'term': 'Cardiovascular Diseases'}, {'id': 'D014652', 'term': 'Vascular Diseases'}, {'id': 'D020765', 'term': 'Intracranial Arterial Diseases'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole blood drawn from a peripheral vein at the start and end of embolisation via the venous catheter used by the anaesthesia team as part of routine care for Research into somatic genetic mutations that activate the RAS/RAF/MEK/ERK (MAPK) signalling pathway in cAVMs'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 16}, 'targetDuration': '3 Months', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2025-09-01', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-06', 'completionDateStruct': {'date': '2028-04-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-09-01', 'studyFirstSubmitDate': '2025-07-23', 'studyFirstSubmitQcDate': '2025-08-01', 'lastUpdatePostDateStruct': {'date': '2025-09-08', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2025-08-05', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2028-01-02', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Evaluate genetic mutations identified by liquid biopsies on the drainage vein of AVMs.', 'timeFrame': 'Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate', 'description': 'determination of each mutation identified in the drainage vein of AVMs,'}, {'measure': 'Assessment of the prevalence of each mutation identified by liquid biopsies on the drainage vein of AVMs', 'timeFrame': 'Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate', 'description': 'Evaluation of the prevalence of each mutation identified in the drainage vein of AVMs, with calculation of the exact 95% confidence interval.'}], 'secondaryOutcomes': [{'measure': 'Evaluation of the imaging characteristics of cAVMs for each of the mutations identified.', 'timeFrame': 'Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate', 'description': 'Imaging characterisation of cAVMs for each of the mutations identified'}, {'measure': 'Evaluate genetic mutations identified by liquid biopsies on the peripheral vein of AVMs.', 'timeFrame': 'Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate', 'description': 'determination of each mutation identified in the peripheral vein of AVMs'}, {'measure': 'Assessment of the prevalence of each mutation identified by liquid biopsies on the peripheral vein of AVMs', 'timeFrame': 'Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate', 'description': 'Evaluation of the prevalence of each mutation identified in the peripheral vein of AVMs, with calculation of the exact 95% confidence interval.'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['embolisation', 'Search for activating somatic genetic mutations'], 'conditions': ['Cerebral Arteriovenous Malformations']}, 'descriptionModule': {'briefSummary': '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.\n\nHowever, 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.', 'detailedDescription': '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.\n\nThe 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.\n\nThe detection of mutations by liquid biopsies would enable the development of targeted, non-invasive drug therapies against these cAVMs.\n\nThe population consists of patients aged 18 years or older with cAVMs, for whom treatment by venous embolisation was recommended during a multidisciplinary consultation meeting.\n\nThis 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.\n\nThese 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).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': '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.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Age ≥ 18 years\n* Treated for cAVM\n* Indication for embolisation treatment decided upon during a multidisciplinary team meeting (MDT)\n* Venous embolisation, with or without arterial embolisation\n* Patients informed about the study and willing to participate\n\nExclusion Criteria:\n\n* Extra-cerebral arteriovenous malformations\n* Under legal protection measures (guardianship/curatorship, etc.)\n* Pregnancy\n* Not eligible for intravenous treatment'}, 'identificationModule': {'nctId': 'NCT07103304', 'acronym': 'BioMAV2', 'briefTitle': 'Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations.', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital, Rouen'}, 'officialTitle': 'Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations. Contribution of Sampling From the Drainage Vein of the Malformation.', 'orgStudyIdInfo': {'id': '2023/0310/OB'}, 'secondaryIdInfos': [{'id': 'N° IDRCB : 2025-A00757-42', 'type': 'OTHER', 'domain': 'ANSM'}]}, 'armsInterventionsModule': {'interventions': [{'name': 'Search for activating somatic genetic mutations', 'type': 'OTHER', 'description': 'This research aims to evaluate the genetic mutations identified by liquid biopsies on the drainage vein of AVMs, and the prevalence of each mutation.\n\nThese 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).'}]}, 'contactsLocationsModule': {'locations': [{'zip': '14033', 'city': 'Caen', 'country': 'France', 'contacts': [{'name': 'Charlotte CB BARBIER, Doctor', 'role': 'CONTACT', 'email': 'barbier-ch@chu-caen.fr', 'phone': '02 31 06 46 97', 'phoneExt': '+33'}], 'facility': 'University Hospital of Caen', 'geoPoint': {'lat': 49.18585, 'lon': -0.35912}}, {'zip': '75013', 'city': 'Paris', 'country': 'France', 'contacts': [{'name': 'Frederic FC CLARENCON, Professor', 'role': 'CONTACT', 'email': 'frederic.clarencon@aphp.fr', 'phone': '01 42 16 55 45', 'phoneExt': '+33'}], 'facility': 'Hôpital la Pitié-Salpêtrière', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}, {'zip': '76031', 'city': 'Rouen', 'country': 'France', 'contacts': [{'name': 'Julien JB BUREL, Doctor', 'role': 'CONTACT', 'email': 'Julien.Burel@chu-rouen.fr', 'phone': '02 32 88 88 50', 'phoneExt': '+33'}], 'facility': 'University Hospital of Rouen', 'geoPoint': {'lat': 49.44313, 'lon': 1.09932}}], 'centralContacts': [{'name': 'Julien JB BUREL, Doctor', 'role': 'CONTACT', 'email': 'Julien.Burel@chu-rouen.fr', 'phone': '02 32 88 88 50', 'phoneExt': '+33'}, {'name': 'Vincent VF FERRANTI, ARC', 'role': 'CONTACT', 'email': 'Vincent.Ferranti@chu-rouen.fr', 'phone': '02 32 88 82 65', 'phoneExt': '+33'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO', 'description': 'The data provided will be the property of the sponsor and will be used solely for its own research activities.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital, Rouen', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}