Clinical trial NCT06689410: Multimodal Biocollection Linked to the French Register of Intracranial Aneurysms
Official title: Multimodal Biocollection Linked to the French Register of Intracranial Aneurysms
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Aneurysm
Brain Aneurysm
Congenital Disease
Keywords: intracranial aneurysm
phenotype
genetics
imaging
multimodal data
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
Collaborators: name: Federation of Medical Specialties
name: Inserm UMR1087, CNRS UMR6291
First posted: 2024-11-14
Enrollment: 1100
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: OTHER

Brief summary: The purpose of the bCAN study is to create a prospective collection of multimodal data and human samples, linked to the French Intracranial Aneurysm Registry (FRAN).

The aim of bCAN is to enable risk stratification of ruptured ICAs by redefining "intracranial aneurysm disease". The description of genotypically and phenotypically specific subgroups of cases will pave the way for improved patient management based on new diagnostic/prognostic strategies among AIC carriers, either in a familial context, or at the level of the general population.

Detailed description: The main objective of bCAN study is to build a predictive model of intracranial aneurysm phenotypes through the combination of information on genetic mutations, imaging findings and ICA rupture characteristics.

The secondary objectives of the bCAN study are (i) to study morphological characterization of ICA and vascular bifurcations, (ii) to deepen knowledge of genotype/clinical and biological phenotype relationships according to the genes identified in the different families, (iii) to research and validate the relationships between genotypes and phenotypes (including rupture) of ICA in a large population of sporadic ICA cases.

Eligibility criteria: Inclusion criteria for sporadic ICA cases:

* Any adult patient consulting for a definite and typical bifurcation AIC authenticated on MRI and/or cerebral arteriography
* Aneurysm discovered less than a year ago, with initial imaging (MRI and/or CTA and DSA) available
* Written consent obtained for study participation
* Patient covered by a social security plan

Inclusion criteria for index and related cases (familial forms) of intracranial aneurysms (ICA):

* Index case: Any adult patient consulting for a definite and typical bifurcation ICA presenting at least one other case with ICA related to the 1st or 2nd degree (child, parent, brother, sister) detected by MRI with at least one Time of Flight (TOF) sequence.
* Family relatives: All 1st- and 2nd-degree relatives (children, parents, brothers, sisters), of legal age, of patients with a family history of definite, typical bifurcation AIC (≥ 2 affected), Screening to be performed using MRI with at least a Time of Flight (TOF) sequence.
* Written consent to participate in the study
* Patient and relatives covered by a social security plan

Exclusion Criteria:

* Syndromic diagnosis known to cause ICA: Marfan syndrome, OSA with SMAD 3, Elhers Danlos syndrome type II and IV, Autosomal Dominant Cystic Fibrosis, Moya-Moya syndrome
* AIC with : Dissecting or fusiform, Associated with arteriovenous malformation, Blister-like, Mycotic
* Cerebral white matter pathology detected on MRI evoking : Col4a1 mutation
* Patient under guardianship or conservatorship
* Person under court protection
* Contraindication to an MRI scan

Primary outcomes:
measure: Performance of a predictive model allowing the classification of ICA subphenotypes
timeFrame: 36 months
Secondary outcomes:
measure: Characterization of arterial bifurcations
timeFrame: 36 months
measure: Characterization of aneurysmal sacs
timeFrame: 36 months
measure: Screening of genetic mutations
timeFrame: 36 months
measure: Correlation between genotypes and phenotypes
timeFrame: 36 months
Other outcomes:
Locations:
city: Nantes
country: France
facility: Nantes University Hospital
state: Loire-Atlantique
Study officials:
affiliation: Nantes University Hospital
name: Romain BOURCIER, MD
role: PRINCIPAL_INVESTIGATOR
References: