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I-CAN Biocollection (I-CAN)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02712892
Recruitment Status : Unknown
Verified February 2016 by Nantes University Hospital.
Recruitment status was:  Not yet recruiting
First Posted : March 18, 2016
Last Update Posted : March 18, 2016
l'institut du thorax - INSERM UMR 1087/CNRS UMR6291
Information provided by (Responsible Party):
Nantes University Hospital

Brief Summary:
Intracranial aneurysm (IA) is an asymptomatic cerebrovascular abnormality affecting 3.2% of the general population. The devastating complication of IA is its rupture, resulting in subarachnoid haemorrhage that can lead to severe disability and death. Unfortunately, there are neither reliable clues nor diagnostic tools to predict the formation and/or the fate of an IA in a given individual. Also, there is no pharmacological drug available to prevent the rupture of aneurysm and subsequent subarachnoid haemorrhage. Current treatments are invasive with a significant risk of procedural morbidity. Thus, still now, the management of patients with IA remains extremely challenging and still controversial. Although the pathogenesis of IA has been the subject of many studies for the last decade, the mechanisms underlying IA formation, growth and rupture are still mostly unknown and relevant animal models of IA are not available. Familial history of IA predisposes to IA formation and rupture and increasing evidence suggest a genetic component of IA formation, with heterogeneous modes of inheritance and penetrance. This project, gathering neuroradiologists, geneticists and vascular biologists, addresses the urgent need to understand the pathogenic mechanisms of IA to develop diagnostic and predictive tools of risk of IA. The investigators propose to identify IA-causing variants by whole-exome sequencing in familial forms of the disease. The investigators hypothesises that the functional analysis of the causal/susceptibility variants thus identified will provide clues to understanding the pathological mechanisms of IA formation, and the bases for developing diagnostic tools. This project aims at meeting this challenge. Based on preliminary data that already allowed to identify such a variant, and the combination of genetic and functional investigations, the specific objectives of this project are: - To identify IA-causing variants in familial forms of the disease by whole-exome sequencing; - To understand the function of these genes/variants in the formation and rupture of IA by molecular and cellular approaches and generation of relevant animal models; - To discover potential biomarkers of risk of IA formation and/or rupture.

Condition or disease Intervention/treatment
Intracranial Aneurysm Genetic: Non Interventional Study

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Study Type : Observational
Estimated Enrollment : 1060 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: IntraCranial ANeurysms: From Familial Forms to Pathophysiological Mechanisms
Study Start Date : April 2016
Estimated Primary Completion Date : April 2016
Estimated Study Completion Date : April 2018

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Presence or absence of genetic abnormalitie [ Time Frame: Until one year ]

    Identification of genetic abnormalities segregant with the presence of intracranial aneurysms in the informative families recruited. Sequencing of the whole exome in a cohort of patients carriers of familial forms of intracranial aneurysms.

    Analysis of blood level of the GAIA 1 protein in a large cohort of familial and sporadic carriers of intracranial aneurysms

Biospecimen Retention:   Samples With DNA

For one patient included:

  • 2 Ethylenediaminetetraacetic acid (EDTA) tubes for DNA (5mL)
  • 2 dry tubes for serum (5mL)

Information from the National Library of Medicine

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Ages Eligible for Study:   20 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

The initial stage of this biocollection based on the recruitment of large families for genetic linkage analysis. This is a first step to identify patients with intracranial aneurysms occurring in a family context, and to conduct a comprehensive investigation according to clinical guidelines in force to assess the potentially informative family and ensure their adherence to the prior biocollection. The next step is the fine and accurate phenotyping of each of the family members (imaging) and the collection of a blood sample for DNA extraction for molecular genetic analysis.

The population recruited will be composed of index and their healthy relatives and cases with sporadic cases and IA. The kinship links will be established from family trees.


Inclusion criteria indexes and related cases (familial) of intracranial aneurysms:

  • Index: Any patient consulting for a major IA and some typical bifurcation with at least one other case reached akin IA 1st degree
  • Related: All similar to the first degree, aged 20 or more, patients with a family background of IA and some typical bifurcation (≥2 achieved) For the latter, directed by screening with Magnetic resonance imaging (MRI) sequence Time of Flight (TOF), axial T2, EGT2.
  • biocollection of Written Consent for participation in the collection of biological samples

Inclusion criteria sporadic cases of IA:

  • Any patient consulting for IA and some typical bifurcation
  • Patients aged 20 years or older
  • biocollection of Written Consent for participation in the collection of biological samples

Non Inclusion Criteria:

  • Patients who have shown the inability or refusal to sign the consent informed biocollection
  • syndromic diagnosis known as AIC provider

    • Marfan Syndrome
    • AOS with SMAD 3
    • Danlos Syndrome Elhers type II and IV
    • Autosomal Dominant Polycystic
    • Moyamoya Syndrome
  • character of IA:

    • Dissecting or fusiform
    • Combined with an arteriovenous malformation
    • Blister-like
    • mycotic
  • Pathology of the cerebral white matter detected on MRI suggestive:

    • Mutation COL4A1

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02712892

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Contact: Hubert DESAL, Pr 02 40 16 56 30
Contact: Romain BOURCIER, Dr

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Angers University Hospital Not yet recruiting
Angers, France, 49933
Contact: Anne Pasco, Dr         
Contact: Emeline Berthier, Dr         
Principal Investigator: Anne Pasco, Dr         
Besançon University Hospital Not yet recruiting
Besançon, France, 25030
Contact: Alessandra Biondi, Pr         
Principal Investigator: Alessandra Biondi, Pr         
Bordeaux University Hospital Not yet recruiting
Bordeaux, France, 33404
Contact: Jérôme Berge, Dr         
Principal Investigator: Jérôme Berge, Dr         
Henri Mondor Hospital (AP-HP) Not yet recruiting
Créteil, France, 94000
Contact: Sophie Gallas, Dr         
Principal Investigator: Sophie Gallas, Dr         
Dijon University Hospital Not yet recruiting
Dijon, France, 21079
Contact: Fréderic Ricolfi, Pr         
Principal Investigator: Fréderic Ricolfi, Pr         
Grenoble University Hospital Not yet recruiting
Grenoble, France, 38043
Contact: Florence Tahon, Dr         
Principal Investigator: Florence Tahon, Dr         
La Reunion University Hospital Not yet recruiting
La réunion, France, 97448
Contact: Marc Bintner, Dr         
Principal Investigator: Marc Bintner, Dr         
Kremlin-Bicêtre University Hospital (AP-HP) Not yet recruiting
Le Kremlin-Bicêtre, France, 94270
Contact: Laurent Spelle, Pr         
Contact: Guillaume Saliou, Dr         
Principal Investigator: Laurent Spelle, Pr         
Limoges University Hospital Not yet recruiting
Limoges, France, 87042
Contact: Suzanna Salem, Dr         
Contact: Charbel Mounayer, Pr         
Principal Investigator: Suzanna Salem, Dr         
Nancy University Hospital Not yet recruiting
Nancy, France, 54035
Contact: Serge Bracard, Pr         
Contact: René Anxionnat, Pr         
Principal Investigator: Serge Bracard, Pr         
Nantes University Hospital Not yet recruiting
Nantes, France, 44093
Contact: Hubert DESAL, Pr    02 40 16 56 30   
Contact: Romain Bourcier, Dr   
Sub-Investigator: Romain Bourcier, Dr         
Lariboisière University Hospital (AP-HP) Not yet recruiting
Paris, France, 75010
Contact: Marc Antoine Labeyrie, Dr         
Principal Investigator: Marc Antoine Labeyrie, Dr         
La Pitié-Salpétrière University Hospital (AP-HP) Not yet recruiting
Paris, France, 75013
Contact: Frédéric Clarençon, Dr         
Principal Investigator: Frédéric Clarençon, Dr         
Sainte Anne Hospital Not yet recruiting
Paris, France, 75014
Contact: Olivier Nagarra, Dr         
Principal Investigator: Olivier Nagarra, Dr         
Rotschild Fundation Not yet recruiting
Paris, France, 75019
Contact: Michel Piotin, Dr         
Contact: Hocien Redjem, Dr         
Principal Investigator: Michel Piotin, Dr         
Poitiers University Hospital Not yet recruiting
Poitiers, France, 86021
Contact: Stéphane Velasco, Dr         
Principal Investigator: Stéphane Velasco, Dr         
Rennes University Hospital
Rennes, France, 35033
Rouen University Hospital Not yet recruiting
Rouen, France, 76031
Contact: Chrysanthi Papagiannaki, Dr         
Principal Investigator: Chrysanthi Papagiannaki, Dr         
Toulouse University Hospital Not yet recruiting
Toulouse, France, 31059
Contact: Anne-Christine Januel, Dr         
Principal Investigator: Anne-Christine Januel, Dr         
Tours University Hospital Not yet recruiting
Tours, France, 37044
Contact: Denis Hebreteau, Pr         
Principal Investigator: Denis Hebreteau, Pr         
Sponsors and Collaborators
Nantes University Hospital
l'institut du thorax - INSERM UMR 1087/CNRS UMR6291
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Principal Investigator: Hubert DESAL, Pr Nantes University Hospital

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Responsible Party: Nantes University Hospital Identifier: NCT02712892     History of Changes
Other Study ID Numbers: RC15_0304
First Posted: March 18, 2016    Key Record Dates
Last Update Posted: March 18, 2016
Last Verified: February 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
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Intracranial Aneurysm
Vascular Diseases
Cardiovascular Diseases
Intracranial Arterial Diseases
Cerebrovascular Disorders
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases