Liquid Biopsies for the Detection of Somatic Mutations in bAVMs
"Personalized medicine has revolutionized patient care, particularly in oncology. Brain arteriovenous malformations (bAVMs) are abnormal vessels located on the surface of the brain or within the brain parenchyma, causing abnormal communication between arterial and venous networks, without the interposition of the capil
| Condition(s) | Brain Arterial Disease |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | "Personalized medicine has revolutionized patient care, particularly in oncology. Brain arteriovenous malformations (bAVMs) are abnormal vessels located on the surface of the brain or within the brain parenchyma, causing abnormal communication between arterial and venous networks, without the interposition of the capillary bed. The main risk of these malformations is rupture, leading to intracranial bleeding, which can cause severe sequelae or even death. bAVMs (except those of clearly identified genetic origin \[\< 5%\], such as mutations associated with Rendu-Osler disease) have long been considered non-genetic in origin. However, somatic genetic mutations activating the RAS/RAF/MEK/ERK (MAPK) signaling pathway have recently been identified in surgical specimens of bAVMs. Additionally, t |
| Who can participate | "\_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) |
| Ages | 18 Years |
| Sex | All |
| Lead sponsor | Assistance Publique - Hôpitaux de Paris |
| Locations | Paris, France |
| Start date | 2025-04-01 |
| NCT ID | NCT06494358 |
| Official listing | https://clinicaltrials.gov/study/NCT06494358 |