NCT06494358 Liquid Biopsies for the Detection of Somatic Mutations in bAVMs
| NCT ID | NCT06494358 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Assistance Publique - Hôpitaux de Paris |
| Condition | Brain Arterial Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2025-04-01 |
| Primary Completion | 2026-12-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2025-04-01 with a primary completion date of 2026-12-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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, 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. Next-generation sequencing of circulating DNA on liquid biopsies is a promising and minimally invasive approach to studying the presence of mutations in arteriovenous malformations. The treatment of a bAVM aims to obliterate the malformation to prevent or avoid the risk of hemorrhage. It may involve several therapeutic modalities: microsurgery, endovascular embolization, and radiosurgery. These treatments can be combined, and microsurgery is often preceded by pre-surgical embolization, aimed at reducing the hemorrhagic risk of the intervention. However, these are invasive treatments, not without risk. The identification of mutations through liquid biopsies could enable the development of non-invasive targeted therapies against these bAVMs. This research aims to identify somatic genetic mutations activating the MAPK signaling pathway in bAVMs. These mutations have already been identified in surgical specimens. This research aims to evaluate the diagnostic performances of liquid biopsies (detection of genetic mutations in blood samples, i.e., circulating DNA), with the gold standard being the detection of the same mutations in surgical specimens."
Eligibility Criteria
"\_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)
Contact & Investigator
Frequently Asked Questions
Who can join the NCT06494358 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Brain Arterial Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06494358 currently recruiting?
Yes, NCT06494358 is actively recruiting participants. Contact the research team at frederic.clarencon@aphp.fr for enrollment information.
Where is the NCT06494358 trial being conducted?
This trial is being conducted at Paris, France.
Who is sponsoring the NCT06494358 clinical trial?
NCT06494358 is sponsored by Assistance Publique - Hôpitaux de Paris. The trial plans to enroll 50 participants.