Набор скоро начнётся NCT07103304

Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations.

— Наблюдательное Cerebral Arteriovenous Malformations

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: В протоколе указаны: Search for activating somatic genetic mutations.
Кому может быть актуально: Состояния в реестре: Cerebral Arteriovenous Malformations. Базовые параметры: от 18 лет · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Франция
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Liquid Biopsies for Detecting Somatic Mutations in Sporadic Cerebral Arteriovenous Malformations. Contribution of Sampling From the Drainage Vein of the Malformation.

Обзор

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.

Подробное описание

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).

Вмешательства

Другое Search for activating somatic genetic mutations
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).

Первичные конечные точки

Evaluate genetic mutations identified by liquid biopsies on the drainage vein of AVMs. [Срок оценки: 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 [Срок оценки: Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate]

Вторичные конечные точки (3)

Evaluation of the imaging characteristics of cAVMs for each of the mutations identified. [Срок оценки: 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. [Срок оценки: 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 [Срок оценки: Embolisation procedure (D0), i.e. a maximum of 45 days after the patient has agreed to participate]

Критерии участия

Критерии включения

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